Gene Variant Detail

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Gene ATM
Variant I2629fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM I2629fs results in a change in the amino acid sequence of the Atm protein beginning at aa 2629 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the PI3K/PI4K and FATC domains (UniProt.org), I2629fs is predicted to lead to a loss of Atm protein function.
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM inact mut ATM I2629fs

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Transcript NM_000051.3
gDNA chr11:g.(108332857_108332858)
cDNA c.(7885_7884)
Protein p.I2629fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017017790.2 chr11:g.(108332857_108332858) c.(7885_7884) p.I2629fs RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.(108332857_108332858) c.(7885_7884) p.I2629fs RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.(108332857_108332858) c.(7885_7884) p.I2629fs RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.(108332857_108332858) c.(7885_7884) p.I2629fs RefSeq GRCh38/hg38
NM_000051.3 chr11:g.(108332857_108332858) c.(7885_7884) p.I2629fs RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.(108332857_108332858) c.(7885_7884) p.I2629fs RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.(108332857_108332858) c.(7885_7884) p.I2629fs RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.(108332857_108332858) c.(7885_7884) p.I2629fs RefSeq GRCh38/hg38

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  • 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 )
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  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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