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Gene | CHEK2 |
Variant | T366fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | CHEK2 T366fs results in a change in the amino acid sequence of the Chek2 protein beginning at aa 366 of 543, likely resulting in premature truncation of the functional protein (UniProt.org). T366fs is predicted to confer a loss of function to the Chek2 protein as demonstrated by loss of kinase activity (PMID: 11053450). |
Associated Drug Resistance | |
Category Variants Paths |
CHEK2 mutant CHEK2 inact mut CHEK2 T366fs |
Transcript | NM_001005735.2 |
gDNA | chr22:g.(28699879_28699880) |
cDNA | c.(1096_1095) |
Protein | p.T366fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001005735 | chr22:g.(28696982_28699879) | c.(1096_1143) | p.T366fs*15 | RefSeq | GRCh38/hg38 |
XM_047441105.1 | chr22:g.(28699879_28699880) | c.(1096_1095) | p.T366fs | RefSeq | GRCh38/hg38 |
NM_001005735.1 | chr22:g.(28699879_28699880) | c.(1096_1095) | p.T366fs | RefSeq | GRCh38/hg38 |
NM_001005735.2 | chr22:g.(28699879_28699880) | c.(1096_1095) | p.T366fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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