Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | CHEK2 |
Variant | E504Q |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | CHEK2 E504Q does not lie within any known functional domains of the Chek2 protein (UniProt.org). E504Q 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 E504Q |
Transcript | NM_007194.4 |
gDNA | chr22:g.28689167C>G |
cDNA | c.1510G>C |
Protein | p.E504Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011529841 | chr22:g.28687947C>G | c.1510G>C | p.E504Q | RefSeq | GRCh38/hg38 |
XM_047441106.1 | chr22:g.28689173C>G | c.1510G>C | p.E504Q | RefSeq | GRCh38/hg38 |
NM_007194 | chr22:g.28689167C>G | c.1510G>C | p.E504Q | RefSeq | GRCh38/hg38 |
NM_007194.3 | chr22:g.28689167C>G | c.1510G>C | p.E504Q | RefSeq | GRCh38/hg38 |
NM_007194.4 | chr22:g.28689167C>G | c.1510G>C | p.E504Q | RefSeq | GRCh38/hg38 |
XM_011529841.1 | chr22:g.28687947C>G | c.1510G>C | p.E504Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|