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Gene ATM
Variant L2572fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM L2572fs results in a change in the amino acid sequence of the Atm protein beginning at aa 2572 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). L2572fs has not been characterized, however, due to the effects of other truncation mutations downstream of L2572 (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 L2572fs

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Transcript NM_000051.4
gDNA chr11:g.(108331962_108331963)
cDNA c.(7714_7713)
Protein p.L2572fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017017790.2 chr11:g.(108331962_108331963) c.(7714_7713) p.L2572fs RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.(108331962_108331963) c.(7714_7713) p.L2572fs RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.(108331962_108331963) c.(7714_7713) p.L2572fs RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.(108331962_108331963) c.(7714_7713) p.L2572fs RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.(108331962_108331963) c.(7714_7713) p.L2572fs RefSeq GRCh38/hg38
NM_000051.4 chr11:g.(108331962_108331963) c.(7714_7713) p.L2572fs RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.(108331962_108331963) c.(7714_7713) p.L2572fs RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.(108331962_108331963) c.(7714_7713) p.L2572fs RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.(108331962_108331963) c.(7714_7713) p.L2572fs RefSeq GRCh38/hg38
NM_000051.3 chr11:g.(108331962_108331963) c.(7714_7713) p.L2572fs RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.(108331962_108331963) c.(7714_7713) p.L2572fs RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.(108331962_108331963) c.(7714_7713) p.L2572fs RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.(108331962_108331963) c.(7714_7713) p.L2572fs RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.(108331962_108331963) c.(7714_7713) p.L2572fs RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.(108331962_108331963) c.(7714_7713) p.L2572fs RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.(108331962_108331963) c.(7714_7713) p.L2572fs RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.(108331962_108331963) c.(7714_7713) p.L2572fs RefSeq GRCh38/hg38

Filtering

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

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