Transcript #00000095 (NM_003900.4, SQSTM1 gene)

Transcript name transcript variant 1
Gene name SQSTM1 (sequestosome 1)
Chromosome 5
Transcript - NCBI ID NM_003900.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_003891.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

40 entries on 1 page. Showing entries 1 - 40.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
?/. 1 c.157G>A r.(?) p.(Ala53Thr) - -
./. 2 c.241G>A r.(?) p.(Glu81Lys) - -
?/. 5 c.295A>C r.(?) p.(Ile99Leu) - -
./. 3 c.463G>A r.(?) p.(Glu155Lys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
./. 4 c.547C>T r.(?) p.(Arg183Cys) - -
./. 4 c.635A>G r.(?) p.(Arg212Cys) - -
./. 5 c.712A>G r.(?) p.(Lys238Glu) - -
./. 5 c.712_714del r.(?) p.(Lys238del) - -
./. 5 c.717C>A r.(?) p.(Asn239Lys) - -
./. 6 c.783C>T r.(=) p.(=) - -
./. 6 c.822G>C r.(?) p.(Glu274Asp) - -
./. 6 c.822G>C r.(?) p.(Glu274Asp) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
./. 6 c.876C>T r.(=) p.(=) - -
./. 6 c.888G>T r.(=) p.(=) VariO:0136 DNA substitution; VariO:0316 transversion -
./. 6 c.889G>A r.(?) p.(Gly297Ser) - -
./. 6 c.936G>A r.(=) p.(=) - -
./. 6 c.954C>T r.(=) p.(=) - -
./. 6 c.954C>T r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition -
./. 6 c.955G>A r.(?) p.(Glu319Lys) - -
./. 7 c.984G>A r.(=) p.(=) - -
./. 7 c.986A>G r.(?) p.(Asp329Gly) - -
?/. 7 c.1011C>G r.(?) p.(Asp337Glu) - -
?/. 7 c.1021C>G r.(?) p.(Leu341Val) - -
./. 7 c.1038G>A r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition -
./. 7 c.1043C>T r.(?) p.(Pro348Leu) - -
./. 7 c.1052G>C r.(?) p.(Gly351Ala) - -
./. 7 c.1116G>T r.(?) p.(Glu372Asp) - -
./. 7 c.1160C>T r.(?) p.(Pro387Leu) - -
./. 7 c.1162C>T r.(?) p.(Pro388Ser) - -
?/. 7i c.1166-14_1166-11del r.(=) p.(=) - -
?/. 7 c.1167G>T r.(?) p.(Glu389Asp) - -
./. 8 c.1175C>T r.(?) p.(Pro392Leu) - -
./. 8 c.1175C>T r.(?) p.(Pro392Leu) - -
./. 8 c.1175C>T r.(?) p.(Pro392Leu) - -
?/. 8 c.1175C>T r.(?) p.(Pro392Leu) - -
./. 8 c.1175C>T r.(?) p.(Pro392Leu) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution
./. 8 c.1231G>A r.(?) p.(Gly411Ser) - -
./. 8 c.1288A>C r.(?) p.(Thr430Pro) - -
?/. 8 c.1316C>T r.(?) p.(Pro439Leu) - -
./. 8 c.1316C>T r.(?) p.(Pro439Leu) - -
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