ATM L2890V
Gene Variant Detail

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Gene ATM
Variant L2890V
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM L2890V lies within the PI3K/PI4K protein kinase domain of the Atm protein (UniProt.org). L2890V is associated with defective induction of Tp53 target gene expression in response to DNA damage in combination with ATM R3008H in patient-derived cells (PMID: 23585524), and fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), 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 L2890V

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Transcript NM_000051.4
gDNA chr11:g.108347362C>G
cDNA c.8668C>G
Protein p.L2890V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047426975.1 chr11:g.108347362C>G c.8668C>G p.L2890V RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108347362C>G c.8668C>G p.L2890V RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108347362C>G c.8668C>G p.L2890V RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108347362C>G c.8668C>G p.L2890V RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108347362C>G c.8668C>G p.L2890V RefSeq GRCh38/hg38
XM_005271561 chr11:g.108347362C>G c.8668C>G p.L2890V RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108347362C>G c.8668C>G p.L2890V RefSeq GRCh38/hg38
XM_047426977.1 chr11:g.108354857C>G c.8668C>G p.L2890V RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108347362C>G c.8668C>G p.L2890V RefSeq GRCh38/hg38
XM_011542842.4 chr11:g.108354857C>G c.8668C>G p.L2890V RefSeq GRCh38/hg38
XM_011542842.3 chr11:g.108354857C>G c.8668C>G p.L2890V RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108347362C>G c.8668C>G p.L2890V RefSeq GRCh38/hg38
NM_000051 chr11:g.108347362C>G c.8668C>G p.L2890V RefSeq GRCh38/hg38
XM_011542842 chr11:g.108354857C>G c.8668C>G p.L2890V RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108347362C>G c.8668C>G p.L2890V RefSeq GRCh38/hg38
XM_017017789 chr11:g.108347362C>G c.8668C>G p.L2890V RefSeq GRCh38/hg38
XM_005271562 chr11:g.108347362C>G c.8668C>G p.L2890V RefSeq GRCh38/hg38
XM_047426979.1 chr11:g.108354857C>G c.8668C>G p.L2890V RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108347362C>G c.8668C>G p.L2890V RefSeq GRCh38/hg38
XM_011542840 chr11:g.108347362C>G c.8668C>G p.L2890V RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108347362C>G c.8668C>G p.L2890V RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108347362C>G c.8668C>G p.L2890V RefSeq GRCh38/hg38
XM_006718843 chr11:g.108347362C>G c.8668C>G p.L2890V RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108347362C>G c.8668C>G p.L2890V RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108347362C>G c.8668C>G p.L2890V RefSeq GRCh38/hg38
XM_047426978.1 chr11:g.108354857C>G c.8668C>G p.L2890V RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108347362C>G c.8668C>G p.L2890V RefSeq GRCh38/hg38
XM_011542843 chr11:g.108347362C>G c.8668C>G p.L2890V RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108347362C>G c.8668C>G p.L2890V RefSeq GRCh38/hg38
XM_017017790 chr11:g.108347362C>G c.8668C>G p.L2890V RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108347362C>G c.8668C>G p.L2890V 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

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  • Click on any column header arrows to sort by that column
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Molecular Profile Protein Effect Treatment Approaches
ATM L2890V loss of function - predicted