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Gene | CHEK2 |
Variant | S428F |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | CHEK2 S428F lies within the protein kinase domain of the Chek2 protein (UniProt.org). S428F results in decreased Chek2 activity in yeast complementation assays (PMID: 15649950), 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 S428F |
Transcript | NM_007194.4 |
gDNA | chr22:g.28695219G>A |
cDNA | c.1283C>T |
Protein | p.S428F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |