Gene Variant Detail

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Gene ATM
Variant S2812Vfs*3
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM S2812Vfs*3 indicates a shift in the reading frame starting at amino acid 2812 and terminating 3 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). Due to the loss of the FATC domain, S2812Vfs*3 is predicted to lead to a loss of Atm protein function (PMID: 16603769).
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM inact mut ATM S2812Vfs*3

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Transcript NM_000051.3
gDNA chr11:g.108345757dupG
cDNA c.8433dupG
Protein p.S2812Vfs*3
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017017790.2 chr11:g.108345757dupG c.8433dupG p.S2812Vfs*3 RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108345757dupG c.8433dupG p.S2812Vfs*3 RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108345757dupG c.8433dupG p.S2812Vfs*3 RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108345757dupG c.8433dupG p.S2812Vfs*3 RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108345757dupG c.8433dupG p.S2812Vfs*3 RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108345757dupG c.8433dupG p.S2812Vfs*3 RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108345757dupG c.8433dupG p.S2812Vfs*3 RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108345757dupG c.8433dupG p.S2812Vfs*3 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