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Gene | CHEK2 |
Variant | T387S |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | CHEK2 T387S lies within the protein kinase domain of the Chek2 protein (UniProt.org). T387S results in decreased cell proliferation compared to wild-type Chek2 in a yeast assay (PMID: 30851065), 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 T387S |
Transcript | NM_007194.4 |
gDNA | chr22:g.28695809G>C |
cDNA | c.1160C>G |
Protein | p.T387S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_007194 | chr22:g.28695809G>C | c.1160C>G | p.T387S | RefSeq | GRCh38/hg38 |
NM_007194.4 | chr22:g.28695809G>C | c.1160C>G | p.T387S | RefSeq | GRCh38/hg38 |
XM_047441107.1 | chr22:g.28695767G>C | c.1160C>G | p.T387S | RefSeq | GRCh38/hg38 |
NM_007194.3 | chr22:g.28695809G>C | c.1160C>G | p.T387S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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