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Gene TSC1
Variant R1062W
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC1 R1062W does not lie within any known functional domains of the Tsc1 protein (UniProt.org). R1062W has been identified in the scientific literature (PMID: 20165957, PMID: 34282751) but has not been biochemically characterized and therefore, its effect on Tsc1 protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance
Category Variants Paths

TSC1 mutant TSC1 R1062W

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Transcript NM_000368.5
gDNA chr9:g.132896546G>A
cDNA c.3184C>T
Protein p.R1062W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406593.1 chr9:g.132896546G>A c.3184C>T p.R1062W RefSeq GRCh38/hg38
XM_006717271 chr9:g.132896546G>A c.3184C>T p.R1062W RefSeq GRCh38/hg38
XM_011518979.3 chr9:g.132896546G>A c.3184C>T p.R1062W RefSeq GRCh38/hg38
NM_001406592.1 chr9:g.132896546G>A c.3184C>T p.R1062W RefSeq GRCh38/hg38
XM_006717271.1 chr9:g.132896546G>A c.3184C>T p.R1062W RefSeq GRCh38/hg38
XM_017015097 chr9:g.132896546G>A c.3184C>T p.R1062W RefSeq GRCh38/hg38
NM_001406596.1 chr9:g.132896546G>A c.3184C>T p.R1062W RefSeq GRCh38/hg38
NM_000368.4 chr9:g.132896546G>A c.3184C>T p.R1062W RefSeq GRCh38/hg38
NM_001406594.1 chr9:g.132896546G>A c.3184C>T p.R1062W RefSeq GRCh38/hg38
XM_017015096 chr9:g.132896546G>A c.3184C>T p.R1062W RefSeq GRCh38/hg38
NM_000368 chr9:g.132896546G>A c.3184C>T p.R1062W RefSeq GRCh38/hg38
XM_005272211 chr9:g.132896546G>A c.3184C>T p.R1062W RefSeq GRCh38/hg38
XM_005272211.1 chr9:g.132896546G>A c.3184C>T p.R1062W RefSeq GRCh38/hg38
XM_011518979.2 chr9:g.132896546G>A c.3184C>T p.R1062W RefSeq GRCh38/hg38
NM_000368.5 chr9:g.132896546G>A c.3184C>T p.R1062W RefSeq GRCh38/hg38
XM_017015096.1 chr9:g.132896546G>A c.3184C>T p.R1062W RefSeq GRCh38/hg38
NM_001406595.1 chr9:g.132896546G>A c.3184C>T p.R1062W RefSeq GRCh38/hg38
XM_011518979 chr9:g.132896546G>A c.3184C>T p.R1062W RefSeq GRCh38/hg38
XM_017015097.1 chr9:g.132896546G>A c.3184C>T p.R1062W 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