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Gene | ATM |
Variant | L2427P |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | ATM L2427P lies within the FAT domain of the Atm protein (UniProt.org). L2427P results in decreased Tp53 phosphorylation and failure to to induce expression of TP53 target genes upon DNA damage in patient-derived cells in culture (PMID: 23585524). |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM inact mut ATM L2427P |
Transcript | NM_000051.4 |
gDNA | chr11:g.108329211T>C |
cDNA | c.7280T>C |
Protein | p.L2427P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000051 | chr11:g.108329211T>C | c.7280T>C | p.L2427P | RefSeq | GRCh38/hg38 |
XM_017017790 | chr11:g.108329211T>C | c.7280T>C | p.L2427P | RefSeq | GRCh38/hg38 |
XM_011542840.3 | chr11:g.108329211T>C | c.7280T>C | p.L2427P | RefSeq | GRCh38/hg38 |
XM_017017789 | chr11:g.108329211T>C | c.7280T>C | p.L2427P | RefSeq | GRCh38/hg38 |
XM_011542840.4 | chr11:g.108329211T>C | c.7280T>C | p.L2427P | RefSeq | GRCh38/hg38 |
XM_011542843 | chr11:g.108329211T>C | c.7280T>C | p.L2427P | RefSeq | GRCh38/hg38 |
XM_005271561 | chr11:g.108329211T>C | c.7280T>C | p.L2427P | RefSeq | GRCh38/hg38 |
XM_006718843.4 | chr11:g.108329211T>C | c.7280T>C | p.L2427P | RefSeq | GRCh38/hg38 |
NM_001351834.2 | chr11:g.108329211T>C | c.7280T>C | p.L2427P | RefSeq | GRCh38/hg38 |
XM_005271562 | chr11:g.108329211T>C | c.7280T>C | p.L2427P | RefSeq | GRCh38/hg38 |
XM_011542843.3 | chr11:g.108329211T>C | c.7280T>C | p.L2427P | RefSeq | GRCh38/hg38 |
NM_000051.3 | chr11:g.108329211T>C | c.7280T>C | p.L2427P | RefSeq | GRCh38/hg38 |
XM_005271562.5 | chr11:g.108329211T>C | c.7280T>C | p.L2427P | RefSeq | GRCh38/hg38 |
XM_011542840 | chr11:g.108329211T>C | c.7280T>C | p.L2427P | RefSeq | GRCh38/hg38 |
XM_047426976.1 | chr11:g.108329211T>C | c.7280T>C | p.L2427P | RefSeq | GRCh38/hg38 |
XM_017017790.3 | chr11:g.108329211T>C | c.7280T>C | p.L2427P | RefSeq | GRCh38/hg38 |
NM_000051.4 | chr11:g.108329211T>C | c.7280T>C | p.L2427P | RefSeq | GRCh38/hg38 |
NM_001351834.1 | chr11:g.108329211T>C | c.7280T>C | p.L2427P | RefSeq | GRCh38/hg38 |
XM_017017789.2 | chr11:g.108329211T>C | c.7280T>C | p.L2427P | RefSeq | GRCh38/hg38 |
XM_006718843 | chr11:g.108329211T>C | c.7280T>C | p.L2427P | RefSeq | GRCh38/hg38 |
XM_006718843.5 | chr11:g.108329211T>C | c.7280T>C | p.L2427P | RefSeq | GRCh38/hg38 |
XM_017017790.2 | chr11:g.108329211T>C | c.7280T>C | p.L2427P | RefSeq | GRCh38/hg38 |
XM_011542843.2 | chr11:g.108329211T>C | c.7280T>C | p.L2427P | RefSeq | GRCh38/hg38 |
XM_005271562.6 | chr11:g.108329211T>C | c.7280T>C | p.L2427P | RefSeq | GRCh38/hg38 |
XM_047426975.1 | chr11:g.108329211T>C | c.7280T>C | p.L2427P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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