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Gene | CHEK2 |
Variant | T476K |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | CHEK2 T476K lies within the protein kinase domain of the Chek2 protein (UniProt.org). T476K results in decreased Chek2-mediated DNA damage response in yeast (PMID: 22419737) and decreased kinase activity in cultured cells (PMID: 16835864). |
Associated Drug Resistance | |
Category Variants Paths |
CHEK2 mutant CHEK2 inact mut CHEK2 T476K |
Transcript | NM_007194.4 |
gDNA | chr22:g.28694066G>T |
cDNA | c.1427C>A |
Protein | p.T476K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |