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Gene ATM
Variant V2716A
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions ATM V2716A lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). V2716A 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 V2716A

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Transcript NM_000051.4
gDNA chr11:g.108335105T>C
cDNA c.8147T>C
Protein p.V2716A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001351834.2 chr11:g.108335105T>C c.8147T>C p.V2716A RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108335105T>C c.8147T>C p.V2716A RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108335105T>C c.8147T>C p.V2716A RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108335105T>C c.8147T>C p.V2716A RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108335105T>C c.8147T>C p.V2716A RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108335105T>C c.8147T>C p.V2716A RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108335105T>C c.8147T>C p.V2716A RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108335105T>C c.8147T>C p.V2716A RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108335105T>C c.8147T>C p.V2716A RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108335105T>C c.8147T>C p.V2716A RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108335105T>C c.8147T>C p.V2716A RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108335105T>C c.8147T>C p.V2716A RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108335105T>C c.8147T>C p.V2716A RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108335105T>C c.8147T>C p.V2716A RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108335105T>C c.8147T>C p.V2716A RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108335105T>C c.8147T>C p.V2716A RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108335105T>C c.8147T>C p.V2716A RefSeq GRCh38/hg38

Filtering

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