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Gene | CHEK2 |
Variant | P426R |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | CHEK2 P426R lies within the protein kinase domain of the Chek2 protein (UniProt.org). P426R results in reduced Kap1 phosphorylation upon ionizing radiation in culture (PMID: 34903604), and therefore, is predicted to lead to a loss of Chek2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
CHEK2 mutant CHEK2 inact mut CHEK2 P426R |
Transcript | NM_007194.4 |
gDNA | chr22:g.28695225G>C |
cDNA | c.1277C>G |
Protein | p.P426R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_007194.3 | chr22:g.28695225G>C | c.1277C>G | p.P426R | RefSeq | GRCh38/hg38 |
NM_007194.4 | chr22:g.28695225G>C | c.1277C>G | p.P426R | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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