Gene Variant Detail

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Gene ATM
Variant V2424G
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions ATM V2424G lies within the FAT domain of the Atm protein (UniProt.org). V2424G results in decreased protein expression, reduced phosphorylation of Atm and downstream targets, and impaired G2/M checkpoint in response to irradiation in culture (PMID: 19431188, PMID: 11830610).
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM inact mut ATM V2424G

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Transcript NM_000051.4
gDNA chr11:g.108329202T>G
cDNA c.7271T>G
Protein p.V2424G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005271562 chr11:g.108329202T>G c.7271T>G p.V2424G RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108329202T>G c.7271T>G p.V2424G RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108329202T>G c.7271T>G p.V2424G RefSeq GRCh38/hg38
XM_006718843 chr11:g.108329202T>G c.7271T>G p.V2424G RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108329202T>G c.7271T>G p.V2424G RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108329202T>G c.7271T>G p.V2424G RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108329202T>G c.7271T>G p.V2424G RefSeq GRCh38/hg38
XM_017017790 chr11:g.108329202T>G c.7271T>G p.V2424G RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108329202T>G c.7271T>G p.V2424G RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108329202T>G c.7271T>G p.V2424G RefSeq GRCh38/hg38
XM_017017789 chr11:g.108329202T>G c.7271T>G p.V2424G RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108329202T>G c.7271T>G p.V2424G RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108329202T>G c.7271T>G p.V2424G RefSeq GRCh38/hg38
XM_011542840 chr11:g.108329202T>G c.7271T>G p.V2424G RefSeq GRCh38/hg38
XM_011542843 chr11:g.108329202T>G c.7271T>G p.V2424G RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108329202T>G c.7271T>G p.V2424G RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108329202T>G c.7271T>G p.V2424G RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108329202T>G c.7271T>G p.V2424G RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108329202T>G c.7271T>G p.V2424G RefSeq GRCh38/hg38
NM_000051 chr11:g.108329202T>G c.7271T>G p.V2424G RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108329202T>G c.7271T>G p.V2424G RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108329202T>G c.7271T>G p.V2424G RefSeq GRCh38/hg38
XM_005271561 chr11:g.108329202T>G c.7271T>G p.V2424G RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108329202T>G c.7271T>G p.V2424G RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108329202T>G c.7271T>G p.V2424G RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

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