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Gene TSC1
Variant Y948F
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC1 Y948F lies within the coiled-coil domain of the Tsc1 protein (UniProt.org). Y948F has not been characterized in the scientific literature and therefore, its effect on Tsc1 protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance
Category Variants Paths

TSC1 mutant TSC1 Y948F

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Transcript NM_000368.5
gDNA chr9:g.132897316T>A
cDNA c.2843A>T
Protein p.Y948F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006717271.1 chr9:g.132897316T>A c.2843A>T p.Y948F RefSeq GRCh38/hg38
NM_001406593.1 chr9:g.132897316T>A c.2843A>T p.Y948F RefSeq GRCh38/hg38
XM_005272211.1 chr9:g.132897316T>A c.2843A>T p.Y948F RefSeq GRCh38/hg38
NM_001406595.1 chr9:g.132897316T>A c.2843A>T p.Y948F RefSeq GRCh38/hg38
NM_000368.4 chr9:g.132897316T>A c.2843A>T p.Y948F RefSeq GRCh38/hg38
NM_001406596.1 chr9:g.132897316T>A c.2843A>T p.Y948F RefSeq GRCh38/hg38
XM_011518979.3 chr9:g.132897316T>A c.2843A>T p.Y948F RefSeq GRCh38/hg38
NM_001406592.1 chr9:g.132897316T>A c.2843A>T p.Y948F RefSeq GRCh38/hg38
NM_000368.5 chr9:g.132897316T>A c.2843A>T p.Y948F RefSeq GRCh38/hg38
XM_017015096 chr9:g.132897316T>A c.2843A>T p.Y948F RefSeq GRCh38/hg38
NM_001406594.1 chr9:g.132897316T>A c.2843A>T p.Y948F RefSeq GRCh38/hg38
NM_000368 chr9:g.132897316T>A c.2843A>T p.Y948F RefSeq GRCh38/hg38
XM_006717271 chr9:g.132897316T>A c.2843A>T p.Y948F RefSeq GRCh38/hg38
XM_017015097 chr9:g.132897316T>A c.2843A>T p.Y948F RefSeq GRCh38/hg38
XM_017015097.1 chr9:g.132897316T>A c.2843A>T p.Y948F RefSeq GRCh38/hg38
XM_005272211 chr9:g.132897316T>A c.2843A>T p.Y948F RefSeq GRCh38/hg38
XM_017015096.1 chr9:g.132897316T>A c.2843A>T p.Y948F RefSeq GRCh38/hg38
XM_011518979 chr9:g.132897316T>A c.2843A>T p.Y948F RefSeq GRCh38/hg38
XM_011518979.2 chr9:g.132897316T>A c.2843A>T p.Y948F 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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  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References