Unique variants in the TARDBP gene

Information The variants shown are described using the NM_007375.3 transcript reference sequence.

66 entries on 1 page. Showing entries 1 - 66.
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Effect     

Reported     

Exon     

AscendingDNA 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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