ATM D1682H
Gene Variant Detail

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Gene ATM
Variant D1682H
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions ATM D1682H does not lie within any known functional domains of the Atm protein (UniProt.org). D1682H retains Atm protein expression but confers a loss of function to Atm as demonstrated by failure to induce expression of TP53 target genes upon DNA damage in patient-derived cells (PMID: 23585524) and failure to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951).
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM inact mut ATM D1682H

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Transcript NM_000051.4
gDNA chr11:g.108299752G>C
cDNA c.5044G>C
Protein p.D1682H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017017791 chr11:g.108299752G>C c.5044G>C p.D1682H RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108299752G>C c.5044G>C p.D1682H RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108299752G>C c.5044G>C p.D1682H RefSeq GRCh38/hg38
NM_000051 chr11:g.108299752G>C c.5044G>C p.D1682H RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108299752G>C c.5044G>C p.D1682H RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108299752G>C c.5044G>C p.D1682H RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108299752G>C c.5044G>C p.D1682H RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108299752G>C c.5044G>C p.D1682H RefSeq GRCh38/hg38
XM_006718843 chr11:g.108299752G>C c.5044G>C p.D1682H RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108299752G>C c.5044G>C p.D1682H RefSeq GRCh38/hg38
XM_017017789 chr11:g.108299752G>C c.5044G>C p.D1682H RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108299752G>C c.5044G>C p.D1682H RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108299752G>C c.5044G>C p.D1682H RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108299752G>C c.5044G>C p.D1682H RefSeq GRCh38/hg38
XM_005271562 chr11:g.108299752G>C c.5044G>C p.D1682H RefSeq GRCh38/hg38
XM_017017792.2 chr11:g.108299752G>C c.5044G>C p.D1682H RefSeq GRCh38/hg38
XM_017017792 chr11:g.108299752G>C c.5044G>C p.D1682H RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108299752G>C c.5044G>C p.D1682H RefSeq GRCh38/hg38
XM_017017790 chr11:g.108299752G>C c.5044G>C p.D1682H RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108299752G>C c.5044G>C p.D1682H RefSeq GRCh38/hg38
XM_011542843 chr11:g.108299752G>C c.5044G>C p.D1682H RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108299752G>C c.5044G>C p.D1682H RefSeq GRCh38/hg38
XM_017017791.1 chr11:g.108299752G>C c.5044G>C p.D1682H RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108299752G>C c.5044G>C p.D1682H RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108299752G>C c.5044G>C p.D1682H RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108299752G>C c.5044G>C p.D1682H RefSeq GRCh38/hg38
XM_005271561 chr11:g.108299752G>C c.5044G>C p.D1682H RefSeq GRCh38/hg38
XM_011542840 chr11:g.108299752G>C c.5044G>C p.D1682H RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108299752G>C c.5044G>C p.D1682H 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References