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Gene | CHEK2 |
Variant | T323P |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CHEK2 T323P lies within the protein kinase domain of the Chek2 protein (UniProt.org). T323P results in DNA damage response similar to wild-type Chek2 in a yeast assay (PMID: 22419737), but decreased kinase activity in an in vitro kinase assay (PMID: 16835864), and therefore, its effect on Chek2 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
CHEK2 mutant CHEK2 T323P |
Transcript | NM_007194.4 |
gDNA | chr22:g.28699879T>G |
cDNA | c.967A>C |
Protein | p.T323P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_007194.3 | chr22:g.28699879T>G | c.967A>C | p.T323P | RefSeq | GRCh38/hg38 |
NM_145862 | chr22:g.28699879T>G | c.967A>C | p.T323P | RefSeq | GRCh38/hg38 |
NM_145862.2 | chr22:g.28699879T>G | c.967A>C | p.T323P | RefSeq | GRCh38/hg38 |
NM_007194 | chr22:g.28699879T>G | c.967A>C | p.T323P | RefSeq | GRCh38/hg38 |
NM_145862.2 | chr22:g.28699879T>G | c.967A>C | p.T323P | RefSeq | GRCh38/hg38 |
NM_007194.4 | chr22:g.28699879T>G | c.967A>C | p.T323P | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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