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Gene | CHEK2 |
Variant | R318C |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | CHEK2 R318C lies within the protein kinase domain of the Chek2 protein (UniProt.org). R318C results in cell proliferation similar to wild-type Chek2 in a yeast assay (PMID: 30851065), and therefore, is predicted to have no effect on Chek2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
CHEK2 mutant CHEK2 R318C |
Transcript | NM_007194.4 |
gDNA | chr22:g.28699894G>A |
cDNA | c.952C>T |
Protein | p.R318C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_145862.2 | chr22:g.28699894G>A | c.952C>T | p.R318C | RefSeq | GRCh38/hg38 |
NM_007194.4 | chr22:g.28699894G>A | c.952C>T | p.R318C | RefSeq | GRCh38/hg38 |
NM_145862.2 | chr22:g.28699894G>A | c.952C>T | p.R318C | RefSeq | GRCh38/hg38 |
NM_007194.3 | chr22:g.28699894G>A | c.952C>T | p.R318C | RefSeq | GRCh38/hg38 |
NM_145862 | chr22:g.28699894G>A | c.952C>T | p.R318C | RefSeq | GRCh38/hg38 |
NM_007194 | chr22:g.28699894G>A | c.952C>T | p.R318C | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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