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Gene | CHEK2 |
Variant | Q487R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CHEK2 Q487R does not lie within any known functional domains of the Chek2 protein (UniProt.org). Q487R has not been characterized in the scientific literature and therefore, its effect on Chek2 protein function is unknown (PubMed, Sep 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CHEK2 mutant CHEK2 Q487R |
Transcript | NM_007194.4 |
gDNA | chr22:g.28694033T>C |
cDNA | c.1460A>G |
Protein | p.Q487R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_007194.3 | chr22:g.28694033T>C | c.1460A>G | p.Q487R | RefSeq | GRCh38/hg38 |
NM_007194 | chr22:g.28694033T>C | c.1460A>G | p.Q487R | RefSeq | GRCh38/hg38 |
NM_007194.4 | chr22:g.28694033T>C | c.1460A>G | p.Q487R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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