ATM A2602fs - Gene Variant Detail

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Gene ATM
Variant A2602fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM A2602fs results in a change in the amino acid sequence of the Atm protein beginning at aa 2602 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). A2602fs has not been characterized however, due to the effects of other truncation mutations downstream of A2602 (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 A2602fs

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Transcript NM_000051.4
gDNA chr11:g.(108332776_108332777)
cDNA c.(7804_7803)
Protein p.A2602fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006718843.5 chr11:g.(108332776_108332777) c.(7804_7803) p.A2602fs RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.(108332776_108332777) c.(7804_7803) p.A2602fs RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.(108332776_108332777) c.(7804_7803) p.A2602fs RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.(108332776_108332777) c.(7804_7803) p.A2602fs RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.(108332776_108332777) c.(7804_7803) p.A2602fs RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.(108332776_108332777) c.(7804_7803) p.A2602fs RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.(108332776_108332777) c.(7804_7803) p.A2602fs RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.(108332776_108332777) c.(7804_7803) p.A2602fs RefSeq GRCh38/hg38
NM_000051.4 chr11:g.(108332776_108332777) c.(7804_7803) p.A2602fs RefSeq GRCh38/hg38
NM_000051.3 chr11:g.(108332776_108332777) c.(7804_7803) p.A2602fs RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.(108332776_108332777) c.(7804_7803) p.A2602fs RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.(108332776_108332777) c.(7804_7803) p.A2602fs RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.(108332776_108332777) c.(7804_7803) p.A2602fs RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.(108332776_108332777) c.(7804_7803) p.A2602fs RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.(108332776_108332777) c.(7804_7803) p.A2602fs RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.(108332776_108332777) c.(7804_7803) p.A2602fs RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.(108332776_108332777) c.(7804_7803) p.A2602fs RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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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