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Gene | CHEK2 |
Variant | E528K |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | CHEK2 E528K does not lie within any known functional domains of the Chek2 protein (UniProt.org). E528K 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 E528K |
Transcript | NM_007194.4 |
gDNA | chr22:g.28687947C>T |
cDNA | c.1582G>A |
Protein | p.E528K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047441106.1 | chr22:g.28687953C>T | c.1582G>A | p.E528K | RefSeq | GRCh38/hg38 |
NM_007194 | chr22:g.28687947C>T | c.1582G>A | p.E528K | RefSeq | GRCh38/hg38 |
XM_011529840.3 | chr22:g.28689167C>T | c.1582G>A | p.E528K | RefSeq | GRCh38/hg38 |
XM_011529840.4 | chr22:g.28689167C>T | c.1582G>A | p.E528K | RefSeq | GRCh38/hg38 |
XM_011529840 | chr22:g.28689167C>T | c.1582G>A | p.E528K | RefSeq | GRCh38/hg38 |
NM_007194.4 | chr22:g.28687947C>T | c.1582G>A | p.E528K | RefSeq | GRCh38/hg38 |
NM_007194.3 | chr22:g.28687947C>T | c.1582G>A | p.E528K | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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