Gene Variant Detail

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Gene ATM
Variant V519I
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM V519I does not lie within any known functional domains of the Atm protein (UniProt.org). V519I results in impaired ability to rescue survival of ATM-deficient cells upon irradiation in culture (PMID: 29059438), 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 V519I

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Transcript NM_000051.4
gDNA chr11:g.108251020G>A
cDNA c.1555G>A
Protein p.V519I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017017792 chr11:g.108251020G>A c.1555G>A p.V519I RefSeq GRCh38/hg38
XM_017017792.2 chr11:g.108251020G>A c.1555G>A p.V519I RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108251020G>A c.1555G>A p.V519I RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108251020G>A c.1555G>A p.V519I RefSeq GRCh38/hg38
XM_017017791.1 chr11:g.108251020G>A c.1555G>A p.V519I RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108251020G>A c.1555G>A p.V519I RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108251020G>A c.1555G>A p.V519I RefSeq GRCh38/hg38
XM_005271561 chr11:g.108251020G>A c.1555G>A p.V519I RefSeq GRCh38/hg38
NM_000051 chr11:g.108251020G>A c.1555G>A p.V519I RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108251020G>A c.1555G>A p.V519I RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108251020G>A c.1555G>A p.V519I RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108251020G>A c.1555G>A p.V519I RefSeq GRCh38/hg38
XM_017017789 chr11:g.108251020G>A c.1555G>A p.V519I RefSeq GRCh38/hg38
XM_017017791 chr11:g.108251020G>A c.1555G>A p.V519I RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108251020G>A c.1555G>A p.V519I RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108251020G>A c.1555G>A p.V519I RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108251020G>A c.1555G>A p.V519I RefSeq GRCh38/hg38
XM_011542840 chr11:g.108251020G>A c.1555G>A p.V519I RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108251020G>A c.1555G>A p.V519I RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108251020G>A c.1555G>A p.V519I RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108251020G>A c.1555G>A p.V519I RefSeq GRCh38/hg38
XM_005271562 chr11:g.108251020G>A c.1555G>A p.V519I RefSeq GRCh38/hg38
XM_011542843 chr11:g.108251020G>A c.1555G>A p.V519I RefSeq GRCh38/hg38
XM_017017790 chr11:g.108251020G>A c.1555G>A p.V519I RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108251020G>A c.1555G>A p.V519I RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108251020G>A c.1555G>A p.V519I RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108251020G>A c.1555G>A p.V519I RefSeq GRCh38/hg38
XM_047426981.1 chr11:g.108251020G>A c.1555G>A p.V519I RefSeq GRCh38/hg38
XM_006718843 chr11:g.108251020G>A c.1555G>A p.V519I RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108251020G>A c.1555G>A p.V519I RefSeq 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.
  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ATM V519I neuroblastoma sensitive Olaparib Preclinical - Cell culture Actionable In a preclinical study, Lynparza (olaparib) treatment of neuroblastoma cells in culture, transfected with Atm V519I, resulted in decreased cell viability as compared to cells carrying wild-type Atm (PMID: 29059438). 29059438