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Gene TSC1
Variant R420Gfs*20
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions TSC1 R420Gfs*20 indicates a shift in the reading frame starting at amino acid 420 and terminating 20 residues downstream causing a premature truncation of the 1164 amino acid Tsc1 protein (UniProt.org). R420Gfs*20 has not been characterized however, due to the effects of other truncation mutations downstream of R420 (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 R420Gfs*20

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Transcript NM_000368.5
gDNA chr9:g.132910576delT
cDNA c.1258delA
Protein p.R420Gfs*20
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011518979.2 chr9:g.132910576delT c.1258delA p.R420Gfs*20 RefSeq GRCh38/hg38
NM_001406592.1 chr9:g.132910576delT c.1258delA p.R420Gfs*20 RefSeq GRCh38/hg38
XM_011518979.3 chr9:g.132910576delT c.1258delA p.R420Gfs*20 RefSeq GRCh38/hg38
NM_000368.4 chr9:g.132910576delT c.1258delA p.R420Gfs*20 RefSeq GRCh38/hg38
XM_017015097.1 chr9:g.132910576delT c.1258delA p.R420Gfs*20 RefSeq GRCh38/hg38
NM_000368.5 chr9:g.132910576delT c.1258delA p.R420Gfs*20 RefSeq GRCh38/hg38
NM_001406595.1 chr9:g.132910576delT c.1258delA p.R420Gfs*20 RefSeq GRCh38/hg38
NM_001406601.1 chr9:g.132910576delT c.1258delA p.R420Gfs*20 RefSeq GRCh38/hg38
XM_005272211.1 chr9:g.132910576delT c.1258delA p.R420Gfs*20 RefSeq GRCh38/hg38
XM_017015096.1 chr9:g.132910576delT c.1258delA p.R420Gfs*20 RefSeq GRCh38/hg38
NM_001406606.1 chr9:g.132910576delT c.1258delA p.R420Gfs*20 RefSeq GRCh38/hg38
NM_001406596.1 chr9:g.132910576delT c.1258delA p.R420Gfs*20 RefSeq GRCh38/hg38
NM_001406594.1 chr9:g.132910576delT c.1258delA p.R420Gfs*20 RefSeq GRCh38/hg38
NM_001406607.1 chr9:g.132910576delT c.1258delA p.R420Gfs*20 RefSeq GRCh38/hg38
NM_001406605.1 chr9:g.132910576delT c.1258delA p.R420Gfs*20 RefSeq GRCh38/hg38
XM_006717271.1 chr9:g.132910576delT c.1258delA p.R420Gfs*20 RefSeq GRCh38/hg38
NM_001406593.1 chr9:g.132910576delT c.1258delA p.R420Gfs*20 RefSeq GRCh38/hg38
NM_001406602.1 chr9:g.132910576delT c.1258delA p.R420Gfs*20 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 )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Protein Effect Treatment Approaches
TSC1 R420Gfs*20 loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor