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Gene | CHEK2 |
Variant | L338R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CHEK2 L338R lies within the protein kinase domain of the Chek2 protein (UniProt.org). L338R has not been characterized and therefore, its effect on Chek2 protein function is unknown (PubMed, Sep 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CHEK2 mutant CHEK2 L338R |
Transcript | NM_007194.4 |
gDNA | chr22:g.28696983A>C |
cDNA | c.1013T>G |
Protein | p.L338R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_007194.4 | chr22:g.28696983A>C | c.1013T>G | p.L338R | RefSeq | GRCh38/hg38 |
NM_007194 | chr22:g.28696983A>C | c.1013T>G | p.L338R | RefSeq | GRCh38/hg38 |
NM_007194.3 | chr22:g.28696983A>C | c.1013T>G | p.L338R | RefSeq | GRCh38/hg38 |
XM_006724114.4 | chr22:g.28689184A>C | c.1013T>G | p.L338R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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