Gene Variant Detail

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Gene TSC1
Variant S331Efs*10
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions TSC1 S331Efs*10 indicates a shift in the reading frame starting at amino acid 331 and terminating 10 residues downstream causing a premature truncation of the 1164 amino acid Tsc1 protein (UniProt.org). S331Efs*10 has not been characterized however, due to the effects of other truncation mutations downstream of S331 (PMID: 11875047, PMID: 20547222), is predicted to lead to a loss of Tsc1 protein function.
Associated Drug Resistance
Category Variants Paths

TSC1 mutant TSC1 inact mut TSC1 S331Efs*10

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Transcript NM_000368.5
gDNA chr9:g.132911492dupC
cDNA c.990dupG
Protein p.S331Efs*10
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017015101 chr9:g.132906814_132906815insGGGGGGGGGTCCC c.989_990insGGACCCCCCCCCG p.S331Efs*10 RefSeq GRCh38/hg38
XM_017015097.1 chr9:g.132911492dupC c.990dupG p.S331Efs*10 RefSeq GRCh38/hg38
XM_006717271 chr9:g.132911492_132911493insG c.989_990insC p.S331Efs*10 RefSeq GRCh38/hg38
NM_001406597.1 chr9:g.132911492dupC c.990dupG p.S331Efs*10 RefSeq GRCh38/hg38
NM_001406630.1 chr9:g.132903815_132903816insTTGGGGGGGGGTC c.990_991insGACCCCCCCCCAA p.S331Efs*10 RefSeq GRCh38/hg38
NM_001406599.1 chr9:g.132911492dupC c.990dupG p.S331Efs*10 RefSeq GRCh38/hg38
XM_011518979.2 chr9:g.132911492dupC c.990dupG p.S331Efs*10 RefSeq GRCh38/hg38
NM_001406602.1 chr9:g.132911492dupC c.990dupG p.S331Efs*10 RefSeq GRCh38/hg38
NM_001406608.1 chr9:g.132911492dupC c.990dupG p.S331Efs*10 RefSeq GRCh38/hg38
NM_000368.5 chr9:g.132911492dupC c.990dupG p.S331Efs*10 RefSeq GRCh38/hg38
XM_011518979 chr9:g.132911492_132911493insG c.989_990insC p.S331Efs*10 RefSeq GRCh38/hg38
NM_001406606.1 chr9:g.132911492dupC c.990dupG p.S331Efs*10 RefSeq GRCh38/hg38
NM_001406609.1 chr9:g.132911492dupC c.990dupG p.S331Efs*10 RefSeq GRCh38/hg38
NM_001406596.1 chr9:g.132911492dupC c.990dupG p.S331Efs*10 RefSeq GRCh38/hg38
XM_005272211 chr9:g.132911492_132911493insG c.989_990insC p.S331Efs*10 RefSeq GRCh38/hg38
NM_000368.4 chr9:g.132911492dupC c.990dupG p.S331Efs*10 RefSeq GRCh38/hg38
NM_001406594.1 chr9:g.132911492dupC c.990dupG p.S331Efs*10 RefSeq GRCh38/hg38
XM_017015098 chr9:g.132911492_132911493insG c.989_990insC p.S331Efs*10 RefSeq GRCh38/hg38
XM_017015096.1 chr9:g.132911492dupC c.990dupG p.S331Efs*10 RefSeq GRCh38/hg38
NM_001406603.1 chr9:g.132911492dupC c.990dupG p.S331Efs*10 RefSeq GRCh38/hg38
NM_001406598.1 chr9:g.132911492dupC c.990dupG p.S331Efs*10 RefSeq GRCh38/hg38
NM_001162426 chr9:g.132911492_132911493insG c.989_990insC p.S331Efs*10 RefSeq GRCh38/hg38
NM_001406607.1 chr9:g.132911492dupC c.990dupG p.S331Efs*10 RefSeq GRCh38/hg38
XM_017015097 chr9:g.132911492_132911493insG c.989_990insC p.S331Efs*10 RefSeq GRCh38/hg38
NM_001406595.1 chr9:g.132911492dupC c.990dupG p.S331Efs*10 RefSeq GRCh38/hg38
NM_001406593.1 chr9:g.132911492dupC c.990dupG p.S331Efs*10 RefSeq GRCh38/hg38
NM_001406622.1 chr9:g.132906812_132906813insTTGGGGGGGGGTC c.990_991insGACCCCCCCCCAA p.S331Efs*10 RefSeq GRCh38/hg38
NM_001406604.1 chr9:g.132911492dupC c.990dupG p.S331Efs*10 RefSeq GRCh38/hg38
XM_011518979.3 chr9:g.132911492dupC c.990dupG p.S331Efs*10 RefSeq GRCh38/hg38
NM_001406629.1 chr9:g.132903815_132903816insTTGGGGGGGGGTC c.990_991insGACCCCCCCCCAA p.S331Efs*10 RefSeq GRCh38/hg38
XM_017015096 chr9:g.132911492_132911493insG c.989_990insC p.S331Efs*10 RefSeq GRCh38/hg38
XM_017015098.1 chr9:g.132911492dupC c.990dupG p.S331Efs*10 RefSeq GRCh38/hg38
NM_001406625.1 chr9:g.132906812_132906813insTTGGGGGGGGGTC c.990_991insGACCCCCCCCCAA p.S331Efs*10 RefSeq GRCh38/hg38
NM_001406621.1 chr9:g.132906812_132906813insTTGGGGGGGGGTC c.990_991insGACCCCCCCCCAA p.S331Efs*10 RefSeq GRCh38/hg38
NM_001406623.1 chr9:g.132906812_132906813insTTGGGGGGGGGTC c.990_991insGACCCCCCCCCAA p.S331Efs*10 RefSeq GRCh38/hg38
XM_017015101.1 chr9:g.132906812_132906813insTTGGGGGGGGGTC c.990_991insGACCCCCCCCCAA p.S331Efs*10 RefSeq GRCh38/hg38
XM_005272211.1 chr9:g.132911492dupC c.990dupG p.S331Efs*10 RefSeq GRCh38/hg38
NM_001162426.1 chr9:g.132911492dupC c.990dupG p.S331Efs*10 RefSeq GRCh38/hg38
NM_001406592.1 chr9:g.132911492dupC c.990dupG p.S331Efs*10 RefSeq GRCh38/hg38
NM_001406605.1 chr9:g.132911492dupC c.990dupG p.S331Efs*10 RefSeq GRCh38/hg38
NM_000368 chr9:g.132911492_132911493insG c.989_990insC p.S331Efs*10 RefSeq GRCh38/hg38
XM_006717271.1 chr9:g.132911492dupC c.990dupG p.S331Efs*10 RefSeq GRCh38/hg38
NM_001406620.1 chr9:g.132906812_132906813insTTGGGGGGGGGTC c.990_991insGACCCCCCCCCAA p.S331Efs*10 RefSeq GRCh38/hg38
NM_001162426.2 chr9:g.132911492dupC c.990dupG p.S331Efs*10 RefSeq GRCh38/hg38
NM_001406600.1 chr9:g.132911492dupC c.990dupG p.S331Efs*10 RefSeq GRCh38/hg38
NM_001406601.1 chr9:g.132911492dupC c.990dupG p.S331Efs*10 RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries