ATM A2622V
Gene Variant Detail

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Gene ATM
Variant A2622V
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM A2622V does not lie within any known functional domains of the Atm protein (UniProt.org). ATM A2622V does not demonstrate defects in protein stability, kinase activity, or radiation-induced nuclear foci formation in cultured cells when the splicing defect resulting from the corresponding DNA change is corrected (PMID: 17389389, PMID: 37438524), however, the corresponding DNA change (c.7865C>T) results in altered splicing of ATM leading to a deletion of 64 nucleotides (PMID: 14695534, PMID: 37438524) and loss of Atm expression in patient cells (PMID: 10330348), and therefore, is predicted to lead to a loss of Atm protein function.
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM inact mut ATM A2622V

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Transcript NM_000051.4
gDNA chr11:g.108332838C>T
cDNA c.7865C>T
Protein p.A2622V
Source Database RefSeq
Genome Build 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
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