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Gene | CHEK2 |
Variant | I160T |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | CHEK2 I160T lies within the FHA domain of the Chek2 protein (UniProt.org). I160T 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 I160T |
Transcript | NM_007194.4 |
gDNA | chr22:g.28725090A>G |
cDNA | c.479T>C |
Protein | p.I160T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_007194.4 | chr22:g.28725090A>G | c.479T>C | p.I160T | RefSeq | GRCh38/hg38 |
NM_145862 | chr22:g.28725090A>G | c.479T>C | p.I160T | RefSeq | GRCh38/hg38 |
NM_007194 | chr22:g.28725090A>G | c.479T>C | p.I160T | RefSeq | GRCh38/hg38 |
NM_145862.2 | chr22:g.28725090A>G | c.479T>C | p.I160T | RefSeq | GRCh38/hg38 |
NM_007194.3 | chr22:g.28725090A>G | c.479T>C | p.I160T | RefSeq | GRCh38/hg38 |
NM_145862.2 | chr22:g.28725090A>G | c.479T>C | p.I160T | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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