Gene Variant Detail

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Gene ATM
Variant Y1961C
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions ATM Y1961C lies within the FAT domain of the Atm protein (UniProt.org). Y1961C results in decreased protein expression and reduced phosphorylation of Atm and downstream targets in response to irradiation in culture (PMID: 19431188).
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM inact mut ATM Y1961C

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Transcript NM_000051.3
gDNA chr11:g.108310279A>G
cDNA c.5882A>G
Protein p.Y1961C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017017790 chr11:g.108310279A>G c.5882A>G p.Y1961C RefSeq GRCh38/hg38
XM_017017789 chr11:g.108310279A>G c.5882A>G p.Y1961C RefSeq GRCh38/hg38
XM_017017791.1 chr11:g.108310279A>G c.5882A>G p.Y1961C RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108310279A>G c.5882A>G p.Y1961C RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108310279A>G c.5882A>G p.Y1961C RefSeq GRCh38/hg38
NM_000051 chr11:g.108310279A>G c.5882A>G p.Y1961C RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108310279A>G c.5882A>G p.Y1961C RefSeq GRCh38/hg38
XM_006718843 chr11:g.108310279A>G c.5882A>G p.Y1961C RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108310279A>G c.5882A>G p.Y1961C RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108310279A>G c.5882A>G p.Y1961C RefSeq GRCh38/hg38
XM_005271562 chr11:g.108310279A>G c.5882A>G p.Y1961C RefSeq GRCh38/hg38
XM_017017791 chr11:g.108310279A>G c.5882A>G p.Y1961C RefSeq GRCh38/hg38
XM_011542843 chr11:g.108310279A>G c.5882A>G p.Y1961C RefSeq GRCh38/hg38
XM_011542840 chr11:g.108310279A>G c.5882A>G p.Y1961C RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108310279A>G c.5882A>G p.Y1961C RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108310279A>G c.5882A>G p.Y1961C RefSeq GRCh38/hg38
XM_005271561 chr11:g.108310279A>G c.5882A>G p.Y1961C RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108310279A>G c.5882A>G p.Y1961C RefSeq GRCh38/hg38

Filtering

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "mtor c1483f"

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References