NDDVD - Neurodegenerative Diseases Variation Database
TARDBP (TAR DNA binding protein)
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Curator:
Y Yang
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Unique variants in the TARDBP gene
The variants shown are described using the NM_007375.3 transcript reference sequence.
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Reported
: The number of times this variant has been reported in the database.
Exon
: Number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = exons 3 to 7, 8i_9 = border intron 8/exon 9.
DNA change (cDNA)
: Description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup.
RNA change
: Description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: Description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Variant/VariO/DNA
: VariO of DNA
Variant/VariO/protein
: VariO of protein
DNA change (genomic) (hg19)
: Description of variant at DNA level, based on the genomic DNA reference sequence (following HGVS recommendations).
g.12345678C>T
g.12345678_12345890del
g.12345678_12345890dup
Reference
: Reference to publication describing the variant, including links to OMIM (when available), PubMed or or other source, e.g. "den Dunnen ASHG2003 P2346".
DB-ID
: Database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro.
Frequency
: Frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested).
How to query this table
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Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.
66 entries on 1 page. Showing entries 1 - 66.
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Legend
How to query
Effect
Reported
Exon
DNA change (cDNA)
RNA change
Protein
Variant/VariO/DNA
Variant/VariO/protein
DNA change (genomic) (hg19)
Reference
DB-ID
Frequency
Owner
?/.
1
2
c.57A>G
r.(57a>g)
p.(=)
-
-
g.11073841A>G
Huang R, Fang DF, Ma MY, Guo XY, Zhao B, Zeng Y, Zhou D, Yang Y, Shang HF.(2012)
TARDBP_000060
-
XY Liu
?/.
1
2
c.120G>A
r.(120g>a)
p.(=)
-
-
g.11073904G>A
1 more item
TARDBP_000055
-
XY Liu
./.
1
2
c.195T>A
r.(?)
p.(Asp65Glu)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.11073979T>A
Guerreiro RJ1, Schymick JC, Crews C, Singleton A, Hardy J, Traynor BJ.(2008)
TARDBP_000001
-
Y Yang
./.
1
2
c.198T>C
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
-
g.11073982T>C
Guerreiro RJ1, Schymick JC, Crews C, Singleton A, Hardy J, Traynor BJ.(2008)
TARDBP_000019
-
Y Yang
./.
1
2i
c.238+85C>T
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
-
g.11074107C>T
Huang R1, Fang DF, Ma MY, Guo XY, Zhao B, Zeng Y, Zhou D, Yang Y, Shang HF.(2012)
TARDBP_000040
-
Y Yang
?/.
1
2i
c.239-18T>C
r.(=)
p.(=)
-
-
g.11076883T>C
1 more item
TARDBP_000054
-
XY Liu
?/., ./.
4
3
c.269C>T
r.(269c>u), r.(?)
p.(Ala90Val)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
g.11076931C>T
D Czell, P M Andersen, M Morita, C Neuwirth, F Perren, M Weber (2013)
,
3 more items
TARDBP_000009
-
XY Liu
,
Y Yang
?/.
1
4
c.404G>C
r.(404g>c)
p.(Ser135Thr)
-
-
g.11078791G>C
Sheng Chen, et al. (2021)
TARDBP_000066
-
XY Liu
./.
1
4
c.506A>G
r.(?)
p.(Asp169Gly)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
g.11078893A>G
1 more item
TARDBP_000002
-
Y Yang
./.
1
4i
c.543+51A>G
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
-
g.11078981A>G
1 more item
TARDBP_000041
-
Y Yang
./.
1
5
c.675A>T
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0316 transversion
-
g.11080617A>T
Guerreiro RJ1, Schymick JC, Crews C, Singleton A, Hardy J, Traynor BJ.(2008)
TARDBP_000020
-
Y Yang
./.
1
5i
c.714+45C>T
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
-
g.11080701C>T
1 more item
TARDBP_000042
-
Y Yang
./.
2
6
c.787A>G
r.(?)
p.(Lys263Glu)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
g.11082253A>G
1 more item
TARDBP_000036
-
Y Yang
?/., ./.
4
6
c.800A>G
r.(800a>g), r.(?)
p.(Asn267Ser)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
g.11082266A>G
Lucia Corrado, A Ratti, C Gellera, E Buratti, et al.
,
Shan Jin, et al. (2023)
,
1 more item
TARDBP_000037
-
XY Liu
,
Y Yang
./., ?/.
2
6
c.859G>A
r.(?), r.(859g>a)
p.(Gly287Ser)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
g.11082325G>A
Lucia Corrado, A Ratti, C Gellera, E Buratti, et al.
,
1 more item
TARDBP_000005
-
Y Yang
,
XY Liu
./.
1
6
c.869G>C
r.(?)
p.(Gly290Ala)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.11082335G>C
1 more item
TARDBP_000004
-
Y Yang
?/.
1
6
c.871A>C
r.(871a>c)
p.(Asn291His)
-
-
g.11082337A>C
Anna A Chami, et al. (2020)
TARDBP_000064
-
XY Liu
+?/., ./.
2
6
c.875G>A
r.(875g>a), r.(?)
p.(Ser292Asn)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
g.11082341G>A
Zou ZY1, Peng Y, Wang XN, Liu MS, Li XG, Cui LY.(2012)
,
1 more item
TARDBP_000025
-
XY Liu
,
Y Yang
./.
1
6
c.881G>C
r.(?)
p.(Gly294Ala)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.11082347G>C
1 more item
TARDBP_000011
-
Y Yang
?/., +/., ./.
7
6
c.881G>T
r.(881g>u), r.(?)
p.(Gly294Val)
-
-
g.11082347G>T
Lucia Corrado, A Ratti, C Gellera, E Buratti, et al.
,
Lucia Corrado, et al. (2020)
,
5 more items
TARDBP_000044
-
XY Liu
./., ?/.
4
6
c.883G>A
r.(?), r.(883g>a)
p.(Gly295Ser)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
g.11082349G>A
Lucia Corrado, A Ratti, C Gellera, E Buratti, et al.
,
3 more items
TARDBP_000035
-
Y Yang
,
XY Liu
?/.
1
6
c.883G>C
r.(883g>c)
p.(Gly295Arg)
-
-
g.11082349G>C
Lucia Corrado, A Ratti, C Gellera, E Buratti, et al.
TARDBP_000049
-
XY Liu
./., ?/.
3
6
c.892G>A
r.(?), r.(892g>a)
p.(Gly298Ser)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
g.11082358G>A
Ichiro Nozaki, Makoto Arai, Kazuya Takahashi, et al.
,
Fanxi Xu, et al. (2022)
,
1 more item
TARDBP_000010
-
Y Yang
,
XY Liu
?/.
1
6
c.893G>T
r.(893g>u)
p.(Gly298Val)
-
-
g.11082359G>T
Jinyue Li, et al. (2022)
TARDBP_000067
-
XY Liu
?/.
1
6
c.931A>G
r.(931a>g)
p.(Met311Val)
-
-
g.11082397A>G
1 more item
TARDBP_000053
-
XY Liu
./.
1
6
c.943G>A
r.(?)
p.(Ala315Thr)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
g.11082409G>A
1 more item
TARDBP_000006
-
Y Yang
?/.
2
6
c.944C>A
r.(?), r.(944c>a)
p.(Ala315Glu)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.11082410C>A
Fujita Y, Ikeda M, Yanagisawa T, Senoo Y, Okamoto K.(2011)
TARDBP_000033
-
Y Yang
,
XY Liu
./.
1
6
c.945G>A
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
-
g.11082411G>A
Guerreiro RJ1, Schymick JC, Crews C, Singleton A, Hardy J, Traynor BJ.(2008)
TARDBP_000018
-
Y Yang
?/.
1
6
c.962C>A
r.(962c>a)
p.(Ala321Asp)
-
-
g.11082428C>A
Orly Goldstein, et al. (2020)
TARDBP_000063
-
XY Liu
./.
1
6
c.963C>T
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
-
g.11082429C>T
Huang R1, Fang DF, Ma MY, Guo XY, Zhao B, Zeng Y, Zhou D, Yang Y, Shang HF.(2012)
TARDBP_000024
-
Y Yang
./.
1
6
c.990A>T
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0316 transversion
-
g.11082456A>T
1 more item
TARDBP_000043
-
Y Yang
./.
1
6
c.991C>A
r.(?)
p.(Gln331Lys)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.11082457C>A
1 more item
TARDBP_000012
-
Y Yang
?/.
1
6
c.994A>G
r.(994a>g)
p.(Ser332Gly)
-
-
g.11082460A>G
Jinyue Li, et al. (2022)
TARDBP_000068
-
XY Liu
?/.
1
6
c.995G>A
r.(995g>a)
p.(Ser332Asn)
-
-
g.11082461G>A
Lucia Corrado, A Ratti, C Gellera, E Buratti, et al.
TARDBP_000050
-
XY Liu
?/.
1
6
c.1004G>A
r.(1004g>a)
p.(Gly335Asp)
-
-
g.11082470G>A
Lucia Corrado, A Ratti, C Gellera, E Buratti, et al.
TARDBP_000051
-
XY Liu
./., ?/.
9
6
c.1009A>G
r.(?), r.(1009a>g)
p.(Met337Val)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
g.11082475A>G
Nicola J Rutherford, Yong-Jie Zhang, Matt Baker, et al.
,
Guo-Rong Xu, et al. (2018)
,
7 more items
TARDBP_000003
-
Y Yang
,
XY Liu
?/., ./.
2
6
c.1028A>G
r.(?)
p.Gln343Arg, p.(Gln343Arg)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
g.11082494A>G
Koichi Okamoto, Yukio Fujita, Eri Hoshino, et al. (2015)
,
1 more item
TARDBP_000014
-
XY Liu
,
Y Yang
?/.
2
6
c.1035C>A
r.(1035c>a)
p.(Asn345Lys)
-
-
g.11082501C>A
Nicola J Rutherford, Yong-Jie Zhang, Matt Baker, et al.
,
Takahiro Takeda, et al. (2019)
TARDBP_000047
-
XY Liu
./., +/., ?/.
4
6
c.1042G>T
r.(?), r.(1042g>u)
p.(Gly348Cys)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.11082508G>T
Peter Kühnlein, Anne-Dorte Sperfeld, Ben Vanmassenhove, et al.
,
Guo-Rong Xu, et al. (2018)
,
2 more items
TARDBP_000007
-
Y Yang
,
XY Liu
?/., ./.
2
6
c.1043G>T
r.(1043g>u), r.(?)
p.(Gly348Val)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.11082509G>T
Feng Wang, et al. (2020)
,
Zou ZY1, Peng Y, Wang XN, Liu MS, Li XG, Cui LY.(2012)
TARDBP_000026
-
XY Liu
,
Y Yang
?/., +/., ./.
5
6
c.1055A>G
r.(1055a>g), r.(?)
p.(Asn352Ser)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
g.11082521A>G
D Czell, P M Andersen, M Morita, C Neuwirth, F Perren, M Weber (2013)
,
4 more items
TARDBP_000028
-
XY Liu
,
Y Yang
./.
1
6
c.1056T>C
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
-
g.11082522T>C
Guerreiro RJ1, Schymick JC, Crews C, Singleton A, Hardy J, Traynor BJ.(2008)
TARDBP_000021
-
Y Yang
?/.
1
6
c.1069G>A
r.(1069g>a)
p.(Gly357Ser)
-
-
g.11082535G>A
1 more item
TARDBP_000059
-
XY Liu
+?/.
1
6
c.1069G>C
r.(?)
p.(Gly357Arg)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.11082535G>C
Chiang HH, Andersen PM, Tysnes OB, Gredal O, Christensen PB, Graff C. (2012)
TARDBP_000030
-
Y Yang
./.
2
6
c.1075A>G
r.(?)
p.(Met359Val)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
g.11082541A>G
1 more item
TARDBP_000038
-
Y Yang
+?/.
1
6
c.1082G>C
r.(?)
p.(Arg361Thr)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.11082548G>C
Chiang HH, Andersen PM, Tysnes OB, Gredal O, Christensen PB, Graff C. (2012)
TARDBP_000031
-
Y Yang
./.
1
6
c.1083G>T
r.(?)
p.(Arg361Ser)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.11082549G>T
1 more item
TARDBP_000008
-
Y Yang
?/.
3
6
c.1098C>G
r.(1098c>g)
p.(=)
-
-
g.11082564C>G
Guo-Rong Xu, et al. (2018)
,
2 more items
TARDBP_000056
-
XY Liu
./.
1
6
c.1098C>T
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
-
g.11082564C>T
Zou ZY1, Peng Y, Wang XN, Liu MS, Li XG, Cui LY.(2012)
TARDBP_000027
-
Y Yang
?/.
2
6
c.1119_1120del
r.(1119_1120del)
p.(Tyr374*)
-
-
g.11082585_11082586del
Andrew King, Claire Troakes, Bradley Smith et al. (2015)
,
Johnathan Cooper-Knock, et al. (2023)
TARDBP_000061
-
XY Liu
?/., ./.
2
6
c.1127G>A
r.(1127g>a), r.(?)
p.(Gly376Asp)
-
-
g.11082593G>A
D Czell, P M Andersen, M Morita, C Neuwirth, F Perren, M Weber (2013)
,
McCann EP et al. (2017)
TARDBP_000029
-
XY Liu
./., ?/.
2
6
c.1132A>G
r.(?), r.(1132a>g)
p.(Asn378Asp)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
g.11082598A>G
Tsai CP1, Soong BW, Lin KP, Tu PH, Lin JL, Lee YC.(2011)
,
Feng Feng, et al. (2021)
TARDBP_000022
-
Y Yang
,
XY Liu
./.
1
6
c.1133A>G
r.(?)
p.(Asn378Ser)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
g.11082599A>G
Huang R1, Fang DF, Ma MY, Guo XY, Zhao B, Zeng Y, Zhou D, Yang Y, Shang HF.(2012)
TARDBP_000023
-
Y Yang
?/., +?/.
2
6
c.1135T>C
r.(1135u>c), r.(?)
p.(Ser379Pro)
-
-
g.11082601T>C
Lucia Corrado, A Ratti, C Gellera, E Buratti, et al.
,
1 more item
TARDBP_000046
-
XY Liu
?/.
1
6
c.1135T>G
r.(1135u>g)
p.(Ser379Ala)
-
-
g.11082601T>G
Teresa Sprovieri, et al. (2019)
TARDBP_000062
-
XY Liu
?/.
1
6
c.1136C>G
r.(1136c>g)
p.(Ser379Cys)
-
-
g.11082602C>G
Lucia Corrado, A Ratti, C Gellera, E Buratti, et al.
TARDBP_000052
-
XY Liu
./., ?/., +/.
16
6
c.1144G>A
r.(?), r.(1144g>a)
p.(Ala382Thr)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
g.11082610G>A
Mandich P et al. (2015)
,
Lucia Corrado, A Ratti, C Gellera, E Buratti, et al.
,
Orrù S et al. (2016)
,
11 more items
TARDBP_000013
-
Y Yang
,
XY Liu
?/.
3
6
c.1147A>G
r.(1147a>g)
p.(Ile383Val)
-
-
g.11082613A>G
Nicola J Rutherford, Yong-Jie Zhang, Matt Baker, et al.
,
Feng Wang, et al. (2020)
,
1 more item
TARDBP_000048
-
XY Liu
?/.
1
6
c.1150G>C
r.(1150g>c)
p.(Gly384Arg)
-
-
g.11082616G>C
Stéphanie Millecamps, François Salachas, Cécile Cazeneuve, et al.
TARDBP_000057
-
XY Liu
?/.
1
6
c.1153T>G
r.(1153u>g)
p.(Trp385Gly)
-
-
g.11082619T>G
Stéphanie Millecamps, François Salachas, Cécile Cazeneuve, et al.
TARDBP_000058
-
XY Liu
./.
1
6
c.1158_1159delATinsCACCAACC
r.(?)
p.(?)
-
-
g.(?)
McCann EP et al. (2017)
TARDBP_000045
-
XY Liu
./.
1
6
c.1158_1159delinsCACCAACC
r.(?)
p.(Ser387delinsThrAsnPro)
VariO:0143 DNA indel
VariO:0029 sequence retaining amino acid indel
g.11082624_11082625delinsCACCAACC
Solski JA1, Yang S, Nicholson GA, Luquin N, Williams KL, Fernando R, Pamphlett R, Blair IP.(2012)
TARDBP_000032
XYZ19940216
Y Yang
./.
1
6
c.1168A>G
r.(?)
p.(Asn390Asp)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
g.11082634A>G
1 more item
TARDBP_000016
-
Y Yang
./.
1
6
c.1169A>G
r.(?)
p.(Asn390Ser)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
g.11082635A>G
1 more item
TARDBP_000015
-
Y Yang
?/., ./.
2
6
c.1178C>T
r.(1178c>u), r.(?)
p.(Ser393Leu)
-
-
g.11082644C>T
Lucia Corrado, A Ratti, C Gellera, E Buratti, et al.
,
Ju X et al. (2016)
TARDBP_000034
-
XY Liu
?/.
1
3'UTR
c.*731A>G
r.(*731a>g)
p.(=)
-
-
g.11083442A>G
Feng Wang, et al. (2020)
TARDBP_000065
-
XY Liu
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