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Gene | ATM |
Variant | A2067D |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | ATM A2067D lies within the FAT domain of the Atm protein (UniProt.org). A2067D confers a loss of function to Atm, resulting in reduced Atm protein expression and decreased Atm kinase activity in cell culture (PMID: 25077176). |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM inact mut ATM A2067D |
Transcript | NM_000051.4 |
gDNA | chr11:g.108317374C>A |
cDNA | c.6200C>A |
Protein | p.A2067D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017017791 | chr11:g.108317374C>A | c.6200C>A | p.A2067D | RefSeq | GRCh38/hg38 |
XM_011542844.3 | chr11:g.108329175C>A | c.6200C>A | p.A2067D | RefSeq | GRCh38/hg38 |
XM_011542844 | chr11:g.108329175C>A | c.6200C>A | p.A2067D | RefSeq | GRCh38/hg38 |
XM_017017791.1 | chr11:g.108317374C>A | c.6200C>A | p.A2067D | RefSeq | GRCh38/hg38 |
XM_006718843.4 | chr11:g.108317374C>A | c.6200C>A | p.A2067D | RefSeq | GRCh38/hg38 |
XM_011542843 | chr11:g.108317374C>A | c.6200C>A | p.A2067D | RefSeq | GRCh38/hg38 |
XM_011542840.4 | chr11:g.108317374C>A | c.6200C>A | p.A2067D | RefSeq | GRCh38/hg38 |
XM_017017789.2 | chr11:g.108317374C>A | c.6200C>A | p.A2067D | RefSeq | GRCh38/hg38 |
XM_017017789 | chr11:g.108317374C>A | c.6200C>A | p.A2067D | RefSeq | GRCh38/hg38 |
XM_047426976.1 | chr11:g.108317374C>A | c.6200C>A | p.A2067D | RefSeq | GRCh38/hg38 |
XM_011542844.4 | chr11:g.108329175C>A | c.6200C>A | p.A2067D | RefSeq | GRCh38/hg38 |
XM_005271562.6 | chr11:g.108317374C>A | c.6200C>A | p.A2067D | RefSeq | GRCh38/hg38 |
XM_047426975.1 | chr11:g.108317374C>A | c.6200C>A | p.A2067D | RefSeq | GRCh38/hg38 |
NM_001351834.2 | chr11:g.108317374C>A | c.6200C>A | p.A2067D | RefSeq | GRCh38/hg38 |
NM_001351834.1 | chr11:g.108317374C>A | c.6200C>A | p.A2067D | RefSeq | GRCh38/hg38 |
XM_005271562.5 | chr11:g.108317374C>A | c.6200C>A | p.A2067D | RefSeq | GRCh38/hg38 |
XM_017017790.2 | chr11:g.108317374C>A | c.6200C>A | p.A2067D | RefSeq | GRCh38/hg38 |
XM_011542840 | chr11:g.108317374C>A | c.6200C>A | p.A2067D | RefSeq | GRCh38/hg38 |
XM_006718843.5 | chr11:g.108317374C>A | c.6200C>A | p.A2067D | RefSeq | GRCh38/hg38 |
XM_011542843.3 | chr11:g.108317374C>A | c.6200C>A | p.A2067D | RefSeq | GRCh38/hg38 |
XM_006718843 | chr11:g.108317374C>A | c.6200C>A | p.A2067D | RefSeq | GRCh38/hg38 |
NM_000051 | chr11:g.108317374C>A | c.6200C>A | p.A2067D | RefSeq | GRCh38/hg38 |
NM_000051.3 | chr11:g.108317374C>A | c.6200C>A | p.A2067D | RefSeq | GRCh38/hg38 |
NM_000051.4 | chr11:g.108317374C>A | c.6200C>A | p.A2067D | RefSeq | GRCh38/hg38 |
XM_017017790.3 | chr11:g.108317374C>A | c.6200C>A | p.A2067D | RefSeq | GRCh38/hg38 |
XM_005271561 | chr11:g.108317374C>A | c.6200C>A | p.A2067D | RefSeq | GRCh38/hg38 |
XM_011542840.3 | chr11:g.108317374C>A | c.6200C>A | p.A2067D | RefSeq | GRCh38/hg38 |
XM_017017790 | chr11:g.108317374C>A | c.6200C>A | p.A2067D | RefSeq | GRCh38/hg38 |
XM_005271562 | chr11:g.108317374C>A | c.6200C>A | p.A2067D | RefSeq | GRCh38/hg38 |
XM_011542843.2 | chr11:g.108317374C>A | c.6200C>A | p.A2067D | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ATM A2067D | loss of function | Olaparib |