TSC2 I1197F
Gene Variant Detail

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Gene TSC2
Variant I1197F
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions TSC2 I1197F does not lie within any known functional domains of the Tsc2 protein (UniProt.org). I1197F results in interaction with Tsc1 similar to wild-type Tsc2, but decreased inhibition of mTORC1 activity as indicated by reduced inhibition of S6k phosphorylation in cultured cells (PMID: 31799751), and therefore, is predicted to lead to a loss of Tsc2 protein function.
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 inact mut TSC2 I1197F

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Transcript NM_000548.5
gDNA chr16:g.2080356A>T
cDNA c.3589A>T
Protein p.I1197F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001114382.2 chr16:g.2080356A>T c.3589A>T p.I1197F RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.2080356A>T c.3589A>T p.I1197F RefSeq GRCh38/hg38
NM_001406685.1 chr16:g.2084609A>T c.3589A>T p.I1197F RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.2080356A>T c.3589A>T p.I1197F RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2080356A>T c.3589A>T p.I1197F RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2080356A>T c.3589A>T p.I1197F RefSeq GRCh38/hg38
NM_001406680.1 chr16:g.2084411A>T c.3589A>T p.I1197F RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2080356A>T c.3589A>T p.I1197F RefSeq GRCh38/hg38
NM_001406686.1 chr16:g.2084609A>T c.3589A>T p.I1197F 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References