Gene Variant Detail

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Gene ATM
Variant P1054R
Impact List missense
Protein Effect no effect
Gene Variant Descriptions ATM P1054R does not lie within any known functional domains of the Atm protein (UniProt.org). P1054R demonstrates kinase activity equivalent to wild-type Atm, functional G2/M checkoiunt (PMID: 18573109, PMID: 19431188) and ability to induce expression of TP53 target genes upon DNA damage in patient-derived cells in culture (PMID: 23585524).
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM P1054R

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Transcript NM_000051.3
gDNA chr11:g.108272729C>G
cDNA c.3161C>G
Protein p.P1054R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011542843.2 chr11:g.108272729C>G c.3161C>G p.P1054R RefSeq GRCh38/hg38
XM_017017792 chr11:g.108272729C>G c.3161C>G p.P1054R RefSeq GRCh38/hg38
XM_005271561 chr11:g.108272729C>G c.3161C>G p.P1054R RefSeq GRCh38/hg38
XM_017017792.2 chr11:g.108272729C>G c.3161C>G p.P1054R RefSeq GRCh38/hg38
NM_000051 chr11:g.108272729C>G c.3161C>G p.P1054R RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108272729C>G c.3161C>G p.P1054R RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108272729C>G c.3161C>G p.P1054R RefSeq GRCh38/hg38
XM_017017791 chr11:g.108272729C>G c.3161C>G p.P1054R RefSeq GRCh38/hg38
XM_011542843 chr11:g.108272729C>G c.3161C>G p.P1054R RefSeq GRCh38/hg38
XM_005271562 chr11:g.108272729C>G c.3161C>G p.P1054R RefSeq GRCh38/hg38
XM_006718843 chr11:g.108272729C>G c.3161C>G p.P1054R RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108272729C>G c.3161C>G p.P1054R RefSeq GRCh38/hg38
XM_017017790 chr11:g.108272729C>G c.3161C>G p.P1054R RefSeq GRCh38/hg38
XM_017017789 chr11:g.108272729C>G c.3161C>G p.P1054R RefSeq GRCh38/hg38
XM_017017791.1 chr11:g.108272729C>G c.3161C>G p.P1054R RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108272729C>G c.3161C>G p.P1054R RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108272729C>G c.3161C>G p.P1054R RefSeq GRCh38/hg38
XM_011542840 chr11:g.108272729C>G c.3161C>G p.P1054R RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108272729C>G c.3161C>G p.P1054R RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108272729C>G c.3161C>G p.P1054R 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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  • 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