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Gene | CHEK2 |
Variant | P426H |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CHEK2 P426H lies within the protein kinase domain of the Chek2 protein (UniProt.org). P426H has been identified in sequencing studies (PMID: 32183364), but has not been biochemically characterized and therefore, its effect on Chek2 protein function is unknown (PubMed, May 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CHEK2 mutant CHEK2 P426H |
Transcript | NM_007194.4 |
gDNA | chr22:g.28695225G>T |
cDNA | c.1277C>A |
Protein | p.P426H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_007194.3 | chr22:g.28695225G>T | c.1277C>A | p.P426H | RefSeq | GRCh38/hg38 |
NM_007194.4 | chr22:g.28695225G>T | c.1277C>A | p.P426H | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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