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Gene | CHEK2 |
Variant | L396V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CHEK2 L396V lies within the protein kinase domain of the Chek2 protein (UniProt.org). L396V 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 L396V |
Transcript | NM_007194.4 |
gDNA | chr22:g.28695783G>C |
cDNA | c.1186C>G |
Protein | p.L396V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017028560 | chr22:g.28696933G>C | c.1186C>G | p.L396V | RefSeq | GRCh38/hg38 |
NM_007194.3 | chr22:g.28695783G>C | c.1186C>G | p.L396V | RefSeq | GRCh38/hg38 |
NM_007194 | chr22:g.28695783G>C | c.1186C>G | p.L396V | RefSeq | GRCh38/hg38 |
XM_017028560.2 | chr22:g.28696933G>C | c.1186C>G | p.L396V | RefSeq | GRCh38/hg38 |
XM_017028560.1 | chr22:g.28696933G>C | c.1186C>G | p.L396V | RefSeq | GRCh38/hg38 |
NM_007194.4 | chr22:g.28695783G>C | c.1186C>G | p.L396V | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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