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Gene | CHEK2 |
Variant | P536L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CHEK2 P536L does not lie within any known functional domains of the Chek2 protein (UniProt.org). P536L has been identified in the scientific literature (PMID: 23243591, PMID: 25980754), 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 P536L |
Transcript | NM_007194.4 |
gDNA | chr22:g.28687922G>A |
cDNA | c.1607C>T |
Protein | p.P536L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047441105.1 | chr22:g.28687964G>A | c.1607C>T | p.P536L | RefSeq | GRCh38/hg38 |
NM_007194.4 | chr22:g.28687922G>A | c.1607C>T | p.P536L | RefSeq | GRCh38/hg38 |
NM_007194.3 | chr22:g.28687922G>A | c.1607C>T | p.P536L | RefSeq | GRCh38/hg38 |
NM_007194 | chr22:g.28687922G>A | c.1607C>T | p.P536L | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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