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Gene | CHEK2 |
Variant | R346G |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CHEK2 R346G lies within the protein kinase domain of the Chek2 protein (UniProt.org). R346G has been identified in the scientific literature (PMID: 26981779), 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 R346G |
Transcript | NM_007194.4 |
gDNA | chr22:g.28696960G>C |
cDNA | c.1036C>G |
Protein | p.R346G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_007194 | chr22:g.28696960G>C | c.1036C>G | p.R346G | RefSeq | GRCh38/hg38 |
NM_007194.3 | chr22:g.28696960G>C | c.1036C>G | p.R346G | RefSeq | GRCh38/hg38 |
NM_007194.4 | chr22:g.28696960G>C | c.1036C>G | p.R346G | RefSeq | GRCh38/hg38 |
XM_047441108.1 | chr22:g.28687926G>C | c.1036C>G | p.R346G | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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