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Gene | ATM |
Variant | R3008C |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | ATM R3008C does not lie within any known functional domains of the Atm protein (UniProt.org). R3008C results in decreased phosphorylation of Atm and downstream targets, failure to induce Tp53 target gene expression and form foci, and defective G2/M checkpoint after DNA damage in culture (PMID: 18573109, PMID: 19431188, PMID: 23585524). |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM inact mut ATM R3008C ATM mutant ATM R3008X ATM R3008C |
Transcript | NM_000051.4 |
gDNA | chr11:g.108365359C>T |
cDNA | c.9022C>T |
Protein | p.R3008C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005271562 | chr11:g.108365359C>T | c.9022C>T | p.R3008C | RefSeq | GRCh38/hg38 |
XM_047426975.1 | chr11:g.108365359C>T | c.9022C>T | p.R3008C | RefSeq | GRCh38/hg38 |
NM_001351834.1 | chr11:g.108365359C>T | c.9022C>T | p.R3008C | RefSeq | GRCh38/hg38 |
NM_000051.4 | chr11:g.108365359C>T | c.9022C>T | p.R3008C | RefSeq | GRCh38/hg38 |
XM_006718843.4 | chr11:g.108365359C>T | c.9022C>T | p.R3008C | RefSeq | GRCh38/hg38 |
XM_011542840.3 | chr11:g.108365359C>T | c.9022C>T | p.R3008C | RefSeq | GRCh38/hg38 |
NM_000051 | chr11:g.108365359C>T | c.9022C>T | p.R3008C | RefSeq | GRCh38/hg38 |
NM_000051.3 | chr11:g.108365359C>T | c.9022C>T | p.R3008C | RefSeq | GRCh38/hg38 |
XM_005271561 | chr11:g.108365359C>T | c.9022C>T | p.R3008C | RefSeq | GRCh38/hg38 |
XM_017017790 | chr11:g.108365359C>T | c.9022C>T | p.R3008C | RefSeq | GRCh38/hg38 |
XM_047426976.1 | chr11:g.108365359C>T | c.9022C>T | p.R3008C | RefSeq | GRCh38/hg38 |
XM_005271562.6 | chr11:g.108365359C>T | c.9022C>T | p.R3008C | RefSeq | GRCh38/hg38 |
XM_005271562.5 | chr11:g.108365359C>T | c.9022C>T | p.R3008C | RefSeq | GRCh38/hg38 |
XM_017017790.3 | chr11:g.108365359C>T | c.9022C>T | p.R3008C | RefSeq | GRCh38/hg38 |
XM_006718843.5 | chr11:g.108365359C>T | c.9022C>T | p.R3008C | RefSeq | GRCh38/hg38 |
XM_006718843 | chr11:g.108365359C>T | c.9022C>T | p.R3008C | RefSeq | GRCh38/hg38 |
XM_017017790.2 | chr11:g.108365359C>T | c.9022C>T | p.R3008C | RefSeq | GRCh38/hg38 |
XM_017017789.2 | chr11:g.108365359C>T | c.9022C>T | p.R3008C | RefSeq | GRCh38/hg38 |
XM_017017789 | chr11:g.108365359C>T | c.9022C>T | p.R3008C | RefSeq | GRCh38/hg38 |
XM_011542840 | chr11:g.108365359C>T | c.9022C>T | p.R3008C | RefSeq | GRCh38/hg38 |
NM_001351834.2 | chr11:g.108365359C>T | c.9022C>T | p.R3008C | RefSeq | GRCh38/hg38 |
XM_011542840.4 | chr11:g.108365359C>T | c.9022C>T | p.R3008C | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ATM R3008C | loss of function | Olaparib |