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Gene | CHEK2 |
Variant | T410fs |
Impact List | frameshift |
Protein Effect | loss of function |
Gene Variant Descriptions | CHEK2 T410fs (corresponds to T367fs in the canonical isoform) results in a change in the amino acid sequence of the Chek2 protein beginning at aa 410 of 586, likely resulting in premature truncation of the functional protein (UniProt.org). T410fs (T367fs) confers a loss of function to the Chek2 protein as demonstrated by reduced tyrosine phosphorylation in response to DNA damage (PMID: 16982735). |
Associated Drug Resistance | |
Category Variants Paths |
CHEK2 mutant CHEK2 inact mut CHEK2 T410fs |
Transcript | NM_001005735.2 |
gDNA | chr22:g.(28695870_28695871) |
cDNA | c.(1228_1227) |
Protein | p.T410fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |