Gene Variant Detail

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Gene ATM
Variant F2516C
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATM F2516C lies within the FAT domain of the Atm protein (UniProt.org). F2516C has been identified in sequencing studies (PMID: 32183364), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, May 2022).
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM F2516C

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Transcript NM_000051.3
gDNA chr11:g.108331475T>G
cDNA c.7547T>G
Protein p.F2516C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006718843.4 chr11:g.108331475T>G c.7547T>G p.F2516C RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108331475T>G c.7547T>G p.F2516C RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108331475T>G c.7547T>G p.F2516C RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108331475T>G c.7547T>G p.F2516C RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108331475T>G c.7547T>G p.F2516C RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108331475T>G c.7547T>G p.F2516C RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108331475T>G c.7547T>G p.F2516C RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108331475T>G c.7547T>G p.F2516C RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • 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