Full data view for gene SQSTM1

Information The variants shown are described using the NM_003900.4 transcript reference sequence.

40 entries on 1 page. Showing entries 1 - 40.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Template     

Technique     

Disease     

Reference     

Ethnic origin     

Remarks     

Panel size     

Owner     
?/. 1 c.157G>A r.(?) p.(Ala53Thr) - - Unknown g.179248093G>A Makito Hirano, Yusaku Nakamura, Kazumasa Saigoh, et al. (2013) SQSTM1_000032 - ? ? ALS Makito Hirano, Yusaku Nakamura, Kazumasa Saigoh, et al. (2013) Japanese - 1 XY Liu
./. 2 c.241G>A r.(?) p.(Glu81Lys) - - Unknown g.179249993G>A Yang Y et al. (2015) SQSTM1_000009 - ? ? ALS Yang Y et al. (2015) Chinese - 1 XY Liu
?/. 5 c.295A>C r.(?) p.(Ile99Leu) - - Unknown g.179250047A>C Chen Y, Zheng ZZ, Chen X, Huang R, Yang Y, Yuan L, Pan L, Hadano S, Shang HF.(2014) SQSTM1_000001 - ? ? ALS Chen Y, Zheng ZZ, Chen X, Huang R, Yang Y, Yuan L, Pan L, Hadano S, Shang HF.(2014) Han Chinese - 1 Y Yang
./. 3 c.463G>A r.(?) p.(Glu155Lys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.179251019G>A Kwok CT1, Morris A1, de Belleroche JS1.(2014) SQSTM1_000003 - ? ? ALS Kwok CT1, Morris A1, de Belleroche JS1.(2014) - - 1 Y Yang
./. 4 c.547C>T r.(?) p.(Arg183Cys) - - Unknown g.179251197C>T Miller L et al. (2015) SQSTM1_000022 - ? ? FTLD Miller L et al. (2015) - - 1 XY Liu
./. 4 c.635A>G r.(?) p.(Arg212Cys) - - Unknown g.179251285A>G Kovacs GG et al. (2016) SQSTM1_000024 - ? ? FTLD Kovacs GG et al. (2016) - - 1 XY Liu
./. 5 c.712A>G r.(?) p.(Lys238Glu) - - Unknown g.179252184A>G Miller L et al. (2015)dbSNP SQSTM1_000016 - ? ? FTLD Miller L et al. (2015) - - 1 XY Liu
./. 5 c.712_714del r.(?) p.(Lys238del) - - Unknown g.179252184_179252186del Luis E et al. (2016) SQSTM1_000025 - ? ? FTLD Luis E et al. (2016) - - 1 XY Liu
./. 5 c.717C>A r.(?) p.(Asn239Lys) - - Unknown g.179252189C>A Yang Y et al. (2015) SQSTM1_000011 - ? ? ALS Yang Y et al. (2015) Chinese - 1 XY Liu
./. 6 c.783C>T r.(=) p.(=) - - Unknown g.179260060C>T Miller L et al. (2015),dbSNP SQSTM1_000019 - ? ? FTLD Miller L et al. (2015) - - 1 XY Liu
./. 6 c.822G>C r.(?) p.(Glu274Asp) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.179260099G>C Kwok CT1, Morris A1, de Belleroche JS1.(2014) SQSTM1_000008 - ? ? ALS Kwok CT1, Morris A1, de Belleroche JS1.(2014) - - 1 Y Yang
./. 6 c.822G>C r.(?) p.(Glu274Asp) - - Unknown g.179260099G>C Miller L et al. (2015),dbSNP SQSTM1_000008 - ? ? FTLD Miller L et al. (2015) - - 1 XY Liu
./. 6 c.876C>T r.(=) p.(=) - - Unknown g.179260153C>T Miller L et al. (2015),dbSNP SQSTM1_000018 - ? ? FTLD Miller L et al. (2015) - - 1 XY Liu
./. 6 c.888G>T r.(=) p.(=) VariO:0136 DNA substitution; VariO:0316 transversion - Unknown g.179260165G>T Kwok CT1, Morris A1, de Belleroche JS1.(2014) SQSTM1_000004 - ? ? ALS Kwok CT1, Morris A1, de Belleroche JS1.(2014) - - 1 Y Yang
./. 6 c.889G>A r.(?) p.(Gly297Ser) - - Unknown g.179260166G>A Yang Y et al. (2015) SQSTM1_000010 - ? ? ALS Yang Y et al. (2015) Chinese - 1 XY Liu
./. 6 c.936G>A r.(=) p.(=) - - Unknown g.179260213G>A Miller L et al. (2015)dbSNP SQSTM1_000017 - ? ? FTLD Miller L et al. (2015) - - 1 XY Liu
./. 6 c.954C>T r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition - Unknown g.179260231C>T Kwok CT1, Morris A1, de Belleroche JS1.(2014) SQSTM1_000005 - ? ? ALS Kwok CT1, Morris A1, de Belleroche JS1.(2014) - - 1 Y Yang
./. 6 c.954C>T r.(=) p.(=) - - Unknown g.179260231C>T Miller L et al. (2015),dbSNP SQSTM1_000005 - ? ? FTLD Miller L et al. (2015) - - 1 XY Liu
./. 6 c.955G>A r.(?) p.(Glu319Lys) - - Unknown g.179260232G>A Luis E et al. (2016) SQSTM1_000027 - ? ? FTLD Luis E et al. (2016) - - 1 XY Liu
./. 7 c.984G>A r.(=) p.(=) - - Unknown g.179260601G>A Miller L et al. (2015),dbSNP SQSTM1_000020 - ? ? FTLD Miller L et al. (2015) - - 1 XY Liu
./. 7 c.986A>G r.(?) p.(Asp329Gly) - - Unknown g.179260603A>G Luis E et al. (2016) SQSTM1_000031 - ? ? FTLD Luis E et al. (2016) - - 1 XY Liu
?/. 7 c.1011C>G r.(?) p.(Asp337Glu) - - Unknown g.179260628C>G Chen Y, Zheng ZZ, Chen X, Huang R, Yang Y, Yuan L, Pan L, Hadano S, Shang HF.(2014) SQSTM1_000033 - ? ? ALS Chen Y, Zheng ZZ, Chen X, Huang R, Yang Y, Yuan L, Pan L, Hadano S, Shang HF.(2014) Han Chinese - 1 XY Liu
?/. 7 c.1021C>G r.(?) p.(Leu341Val) - - Unknown g.179260638C>G Chen Y, Zheng ZZ, Chen X, Huang R, Yang Y, Yuan L, Pan L, Hadano S, Shang HF.(2014) SQSTM1_000015 - ? ? ALS Chen Y, Zheng ZZ, Chen X, Huang R, Yang Y, Yuan L, Pan L, Hadano S, Shang HF.(2014) Han Chinese - 1 Y Yang
./. 7 c.1038G>A r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition - Unknown g.179260655G>A Kwok CT1, Morris A1, de Belleroche JS1.(2014) SQSTM1_000006 - ? ? ALS Kwok CT1, Morris A1, de Belleroche JS1.(2014) - - 1 Y Yang
./. 7 c.1043C>T r.(?) p.(Pro348Leu) - - Unknown g.179260660C>T Luis E et al. (2016) SQSTM1_000028 - ? ? FTLD Luis E et al. (2016) - - 1 XY Liu
./. 7 c.1052G>C r.(?) p.(Gly351Ala) - - Unknown g.179260669G>C Miller L et al. (2015) SQSTM1_000023 - ? ? FTLD Miller L et al. (2015) - - 1 XY Liu
./. 7 c.1116G>T r.(?) p.(Glu372Asp) - - Unknown g.179260733G>T Yang Y et al. (2015) SQSTM1_000012 - ? ? AD Yang Y et al. (2015) Chinese - 1 XY Liu
./. 7 c.1160C>T r.(?) p.(Pro387Leu) - - Unknown g.179260777C>T Luis E et al. (2016) SQSTM1_000026 - ? ? FTLD Luis E et al. (2016) - - 1 XY Liu
./. 7 c.1162C>T r.(?) p.(Pro388Ser) - - Unknown g.179260779C>T Yang Y et al. (2015) SQSTM1_000013 - ? ? ALS Yang Y et al. (2015) Chinese - 1 XY Liu
?/. 7i c.1166-14_1166-11del r.(=) p.(=) - - Unknown g.179263422_179263425del Chen Y, Zheng ZZ, Chen X, Huang R, Yang Y, Yuan L, Pan L, Hadano S, Shang HF.(2014) SQSTM1_000034 - ? ? ALS Chen Y, Zheng ZZ, Chen X, Huang R, Yang Y, Yuan L, Pan L, Hadano S, Shang HF.(2014) Han Chinese - 1 XY Liu
?/. 7 c.1167G>T r.(?) p.(Glu389Asp) - - Unknown g.179263437G>T Xiaolu Liu, et al. (2021) SQSTM1_000035 - ? ? ALS Xiaolu Liu, et al. (2021) Chinese - 1 XY Liu
./. 8 c.1175C>T r.(?) p.(Pro392Leu) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.179263445C>T Kwok CT1, Morris A1, de Belleroche JS1.(2014) SQSTM1_000007 - ? ? ALS Kwok CT1, Morris A1, de Belleroche JS1.(2014) - - 1 Y Yang
./. 8 c.1175C>T r.(?) p.(Pro392Leu) - - Unknown g.179263445C>T Yang Y et al. (2015) SQSTM1_000007 - ? ? ALS Yang Y et al. (2015) Chinese - 1 XY Liu
./. 8 c.1175C>T r.(?) p.(Pro392Leu) - - Unknown g.179263445C>T Miller L et al. (2015),dbSNP SQSTM1_000007 - ? ? FTLD Miller L et al. (2015) - - 1 XY Liu
./. 8 c.1175C>T r.(?) p.(Pro392Leu) - - Unknown g.179263445C>T Luis E et al. (2016) SQSTM1_000007 - ? ? FTLD Luis E et al. (2016) - - 1 XY Liu
?/. 8 c.1175C>T r.(?) p.(Pro392Leu) - - Unknown g.179263445C>T Xiaolu Liu, et al. (2021) SQSTM1_000007 - ? ? ALS Xiaolu Liu, et al. (2021) Chinese - 1 XY Liu
./. 8 c.1231G>A r.(?) p.(Gly411Ser) - - Unknown g.179263501G>A Miller L et al. (2015),dbSNP SQSTM1_000021 - ? ? FTLD Miller L et al. (2015) - - 1 XY Liu
./. 8 c.1288A>C r.(?) p.(Thr430Pro) - - Unknown g.179263558A>C Luis E et al. (2016) SQSTM1_000030 - ? ? FTLD Luis E et al. (2016) - - 1 XY Liu
./. 8 c.1316C>T r.(?) p.(Pro439Leu) - - Unknown g.179263586C>T Luis E et al. (2016) SQSTM1_000029 - ? ? FTLD Luis E et al. (2016) - - 1 XY Liu
?/. 8 c.1316C>T r.(?) p.(Pro439Leu) - - Unknown g.179263586C>T Makito Hirano, Yusaku Nakamura, Kazumasa Saigoh, et al. (2013) SQSTM1_000029 - ? ? ALS Makito Hirano, Yusaku Nakamura, Kazumasa Saigoh, et al. (2013) Japanese - 1 XY Liu
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