Gene Variant Detail

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Gene ATM
Variant A2062V
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM A2062V lies within the FAT domain of the Atm protein (UniProt.org). A2062V results in failure to induce expression of TP53 target genes upon DNA damage in patient-derived cells in culture (PMID: 23585524), 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 A2062V

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Transcript NM_000051.3
gDNA chr11:g.108316100C>T
cDNA c.6185C>T
Protein p.A2062V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005271561 chr11:g.108316100C>T c.6185C>T p.A2062V RefSeq GRCh38/hg38
XM_011542840 chr11:g.108316100C>T c.6185C>T p.A2062V RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108316100C>T c.6185C>T p.A2062V RefSeq GRCh38/hg38
XM_011542843 chr11:g.108316100C>T c.6185C>T p.A2062V RefSeq GRCh38/hg38
XM_017017791.1 chr11:g.108316100C>T c.6185C>T p.A2062V RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108316100C>T c.6185C>T p.A2062V RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108316100C>T c.6185C>T p.A2062V RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108316100C>T c.6185C>T p.A2062V RefSeq GRCh38/hg38
XM_017017790 chr11:g.108316100C>T c.6185C>T p.A2062V RefSeq GRCh38/hg38
XM_017017789 chr11:g.108316100C>T c.6185C>T p.A2062V RefSeq GRCh38/hg38
XM_006718843 chr11:g.108316100C>T c.6185C>T p.A2062V RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108316100C>T c.6185C>T p.A2062V RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108316100C>T c.6185C>T p.A2062V RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108316100C>T c.6185C>T p.A2062V RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108316100C>T c.6185C>T p.A2062V RefSeq GRCh38/hg38
XM_017017791 chr11:g.108316100C>T c.6185C>T p.A2062V RefSeq GRCh38/hg38
NM_000051 chr11:g.108316100C>T c.6185C>T p.A2062V RefSeq GRCh38/hg38
XM_005271562 chr11:g.108316100C>T c.6185C>T p.A2062V RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "mtor c1483f"

Sorting

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  • 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