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Gene | CHEK2 |
Variant | P182H |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CHEK2 P182H does not lie within any known functional domains of the Chek2 protein (UniProt.org). P182H 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 P182H |
Transcript | NM_007194.4 |
gDNA | chr22:g.28725024G>T |
cDNA | c.545C>A |
Protein | p.P182H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_145862.2 | chr22:g.28725024G>T | c.545C>A | p.P182H | RefSeq | GRCh38/hg38 |
NM_007194.4 | chr22:g.28725024G>T | c.545C>A | p.P182H | RefSeq | GRCh38/hg38 |
NM_007194.3 | chr22:g.28725024G>T | c.545C>A | p.P182H | RefSeq | GRCh38/hg38 |
NM_007194 | chr22:g.28725024G>T | c.545C>A | p.P182H | RefSeq | GRCh38/hg38 |
NM_145862.2 | chr22:g.28725024G>T | c.545C>A | p.P182H | RefSeq | GRCh38/hg38 |
NM_145862 | chr22:g.28725024G>T | c.545C>A | p.P182H | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
CHEK2 P182H | unknown |