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Gene | CHEK2 |
Variant | V109A |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CHEK2 V109A does not lie within any known functional domains of the Chek2 protein (UniProt.org). V109A has been identified in the scientific literature (PMID: 21765476), but has not been biochemically characterized and therefore, its effect on Chek2 protein function is unknown (PubMed, Sep 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CHEK2 mutant CHEK2 V109A |
Transcript | NM_007194.4 |
gDNA | chr22:g.28725361A>G |
cDNA | c.326T>C |
Protein | p.V109A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001349956.2 | chr22:g.28725361A>G | c.326T>C | p.V109A | RefSeq | GRCh38/hg38 |
NM_001349956.1 | chr22:g.28725361A>G | c.326T>C | p.V109A | RefSeq | GRCh38/hg38 |
NM_007194.4 | chr22:g.28725361A>G | c.326T>C | p.V109A | RefSeq | GRCh38/hg38 |
NM_007194 | chr22:g.28725361A>G | c.326T>C | p.V109A | RefSeq | GRCh38/hg38 |
XM_011529843 | chr22:g.28725361A>G | c.326T>C | p.V109A | RefSeq | GRCh38/hg38 |
NM_145862.2 | chr22:g.28725361A>G | c.326T>C | p.V109A | RefSeq | GRCh38/hg38 |
NM_145862.2 | chr22:g.28725361A>G | c.326T>C | p.V109A | RefSeq | GRCh38/hg38 |
NM_145862 | chr22:g.28725361A>G | c.326T>C | p.V109A | RefSeq | GRCh38/hg38 |
NM_007194.3 | chr22:g.28725361A>G | c.326T>C | p.V109A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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