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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). I2629fs has not been characterized, however, due to the effects of other truncation mutations downstream of I2629 (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 I2629fs

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Transcript NM_000051.4
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
NM_000051.3 chr11:g.(108332857_108332858) c.(7885_7884) p.I2629fs RefSeq GRCh38/hg38
NM_000051.4 chr11:g.(108332857_108332858) c.(7885_7884) p.I2629fs RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.(108332857_108332858) c.(7885_7884) p.I2629fs RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.(108332857_108332858) c.(7885_7884) p.I2629fs RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.(108332857_108332858) c.(7885_7884) p.I2629fs RefSeq GRCh38/hg38
NM_001351834.2 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_011542840.3 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
XM_006718843.5 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
XM_006718843.4 chr11:g.(108332857_108332858) c.(7885_7884) p.I2629fs RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.(108332857_108332858) c.(7885_7884) p.I2629fs RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.(108332857_108332858) c.(7885_7884) p.I2629fs RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.(108332857_108332858) c.(7885_7884) p.I2629fs RefSeq GRCh38/hg38
XM_047426975.1 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

Filtering

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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