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Gene | ATM |
Variant | R2849P |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | ATM R2849P lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). R2849P confers a loss of function to the Atm protein as demonstrated by loss of kinase activity in an in vitro assay and cultured cells, and increased radiosensitivity and radiation-induced chromosome aberrations in cultured cells (PMID: 11805335). |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM inact mut ATM R2849P |
Transcript | NM_000051.4 |
gDNA | chr11:g.108345870G>C |
cDNA | c.8546G>C |
Protein | p.R2849P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017017790.2 | chr11:g.108345870G>C | c.8546G>C | p.R2849P | RefSeq | GRCh38/hg38 |
XM_017017789.2 | chr11:g.108345870G>C | c.8546G>C | p.R2849P | RefSeq | GRCh38/hg38 |
XM_047426975.1 | chr11:g.108345870G>C | c.8546G>C | p.R2849P | RefSeq | GRCh38/hg38 |
NM_001351834.2 | chr11:g.108345870G>C | c.8546G>C | p.R2849P | RefSeq | GRCh38/hg38 |
XM_011542840.3 | chr11:g.108345870G>C | c.8546G>C | p.R2849P | RefSeq | GRCh38/hg38 |
XM_011542840.4 | chr11:g.108345870G>C | c.8546G>C | p.R2849P | RefSeq | GRCh38/hg38 |
XM_005271562.5 | chr11:g.108345870G>C | c.8546G>C | p.R2849P | RefSeq | GRCh38/hg38 |
XM_011542843.3 | chr11:g.108345870G>C | c.8546G>C | p.R2849P | RefSeq | GRCh38/hg38 |
XM_006718843.4 | chr11:g.108345870G>C | c.8546G>C | p.R2849P | RefSeq | GRCh38/hg38 |
NM_001351834.1 | chr11:g.108345870G>C | c.8546G>C | p.R2849P | RefSeq | GRCh38/hg38 |
XM_047426976.1 | chr11:g.108345870G>C | c.8546G>C | p.R2849P | RefSeq | GRCh38/hg38 |
NM_000051.3 | chr11:g.108345870G>C | c.8546G>C | p.R2849P | RefSeq | GRCh38/hg38 |
XM_005271562.6 | chr11:g.108345870G>C | c.8546G>C | p.R2849P | RefSeq | GRCh38/hg38 |
XM_011542843.2 | chr11:g.108345870G>C | c.8546G>C | p.R2849P | RefSeq | GRCh38/hg38 |
XM_006718843.5 | chr11:g.108345870G>C | c.8546G>C | p.R2849P | RefSeq | GRCh38/hg38 |
NM_000051.4 | chr11:g.108345870G>C | c.8546G>C | p.R2849P | RefSeq | GRCh38/hg38 |
XM_017017790.3 | chr11:g.108345870G>C | c.8546G>C | p.R2849P | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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