Gene Variant Detail

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Gene ATM
Variant V2662del
Impact List deletion
Protein Effect loss of function
Gene Variant Descriptions ATM V2662del results in the deletion of an amino acid of the Atm protein at amino acid 2662 (UniProt.org). V2662del confers a loss of function to the Atm protein as demonstrated by loss of kinase activity in an in vitro assay and cultured cells, and increased radiosensitivity and radiation-induced chromosome aberrations in cultured cells (PMID: 11805335).
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM inact mut ATM V2662del

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Transcript NM_000051.3
gDNA chr11:g.108333947_108333949delTGT
cDNA c.7989_7991delTGT
Protein p.V2662del
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000051.3 chr11:g.108333947_108333949delTGT c.7989_7991delTGT p.V2662del 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"

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