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Gene ATM
Variant Q2522fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM Q2522fs results in a change in the amino acid sequence of the Atm protein beginning at aa 2522 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). Q2522fs has not been characterized, however, due to the effects of other truncation mutations downstream of Q2522 (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 Q2522fs

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Transcript NM_000051.4
gDNA chr11:g.(108331491_108331492)
cDNA c.(7564_7563)
Protein p.Q2522fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000051.3 chr11:g.(108331491_108331492) c.(7564_7563) p.Q2522fs RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.(108331491_108331492) c.(7564_7563) p.Q2522fs RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.(108331491_108331492) c.(7564_7563) p.Q2522fs RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.(108331491_108331492) c.(7564_7563) p.Q2522fs RefSeq GRCh38/hg38
NM_000051.4 chr11:g.(108331491_108331492) c.(7564_7563) p.Q2522fs RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.(108331491_108331492) c.(7564_7563) p.Q2522fs RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.(108331491_108331492) c.(7564_7563) p.Q2522fs RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.(108331491_108331492) c.(7564_7563) p.Q2522fs RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.(108331491_108331492) c.(7564_7563) p.Q2522fs RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.(108331491_108331492) c.(7564_7563) p.Q2522fs RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.(108331491_108331492) c.(7564_7563) p.Q2522fs RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.(108331491_108331492) c.(7564_7563) p.Q2522fs RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.(108331491_108331492) c.(7564_7563) p.Q2522fs RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.(108331491_108331492) c.(7564_7563) p.Q2522fs RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.(108331491_108331492) c.(7564_7563) p.Q2522fs RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.(108331491_108331492) c.(7564_7563) p.Q2522fs RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.(108331491_108331492) c.(7564_7563) p.Q2522fs 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