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). S2812Vfs*3 has not been characterized, however, due to the effects of other truncation mutations downstream of S2812 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM inact mut ATM S2812Vfs*3

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Transcript NM_000051.4
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_006718843.5 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
XM_005271562.5 chr11:g.108345757dupG c.8433dupG p.S2812Vfs*3 RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108345757dupG c.8433dupG p.S2812Vfs*3 RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108345757dupG c.8433dupG p.S2812Vfs*3 RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108345757dupG c.8433dupG p.S2812Vfs*3 RefSeq GRCh38/hg38
XM_005271562.6 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
XM_011542840.4 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
NM_001351834.2 chr11:g.108345757dupG c.8433dupG p.S2812Vfs*3 RefSeq GRCh38/hg38
XM_017017790.3 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_011542843.3 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
NM_000051.3 chr11:g.108345757dupG c.8433dupG p.S2812Vfs*3 RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108345757dupG c.8433dupG p.S2812Vfs*3 RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References