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Gene | CHEK2 |
Variant | F475I |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | CHEK2 F475I lies within the protein kinase domain of the Chek2 protein (UniProt.org). F475I results in cell proliferation similar to wild-type Chek2 in a yeast assay (PMID: 30851065), and therefore, is predicted to have no effect on Chek2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
CHEK2 mutant CHEK2 F475I |
Transcript | NM_007194.4 |
gDNA | chr22:g.28694070A>T |
cDNA | c.1423T>A |
Protein | p.F475I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_007194.4 | chr22:g.28694070A>T | c.1423T>A | p.F475I | RefSeq | GRCh38/hg38 |
NM_007194.3 | chr22:g.28694070A>T | c.1423T>A | p.F475I | RefSeq | GRCh38/hg38 |
NM_007194 | chr22:g.28694070A>T | c.1423T>A | p.F475I | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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