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Gene | CHEK2 |
Variant | K244R |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | CHEK2 K244R lies within the protein kinase domain of the Chek2 protein (UniProt.org). K244R results in kinase activity similar to wild-type Chek2 in an in vitro assay (PMID: 22114986) and Kap1 phosphorylation and Chek2 autophosphorylation similar to wild-type in CHEK2-null cells in culture (PMID: 37449874), and therefore, is predicted to have no effect on Chek2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
CHEK2 mutant CHEK2 K244R |
Transcript | NM_007194.4 |
gDNA | chr22:g.28711970T>C |
cDNA | c.731A>G |
Protein | p.K244R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |