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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
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047426975.1 chr11:g.108332838C>T c.7865C>T p.A2622V RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108332838C>T c.7865C>T p.A2622V RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108332838C>T c.7865C>T p.A2622V RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108332838C>T c.7865C>T p.A2622V RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108332838C>T c.7865C>T p.A2622V RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108332838C>T c.7865C>T p.A2622V RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108332838C>T c.7865C>T p.A2622V RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108332838C>T c.7865C>T p.A2622V RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108332838C>T c.7865C>T p.A2622V RefSeq GRCh38/hg38

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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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries