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Gene | CHEK2 |
Variant | R181C |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CHEK2 R181C does not lie within any known functional domains of the Chek2 protein (UniProt.org). R181C results in kinase activity similar to wild-type Chek2 in a kinase assay and in cultured cells (PMID: 31050813), but decreased Chek2 kinase activity in an in vitro assay in another study (PMID: 16835864), and decreased DNA damage response in yeast (PMID: 22419737), and therefore, its effect on Chek2 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
CHEK2 mutant CHEK2 R181C |
Transcript | NM_007194.4 |
gDNA | chr22:g.28725028G>A |
cDNA | c.541C>T |
Protein | p.R181C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_145862.2 | chr22:g.28725028G>A | c.541C>T | p.R181C | RefSeq | GRCh38/hg38 |
NM_145862 | chr22:g.28725028G>A | c.541C>T | p.R181C | RefSeq | GRCh38/hg38 |
NM_007194.3 | chr22:g.28725028G>A | c.541C>T | p.R181C | RefSeq | GRCh38/hg38 |
NM_007194.4 | chr22:g.28725028G>A | c.541C>T | p.R181C | RefSeq | GRCh38/hg38 |
NM_007194 | chr22:g.28725028G>A | c.541C>T | p.R181C | RefSeq | GRCh38/hg38 |
NM_145862.2 | chr22:g.28725028G>A | c.541C>T | p.R181C | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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