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 | S505T |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | CHEK2 S505T does not lie within any known functional domains of the Chek2 protein (UniProt.org). S505T 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 S505T |
Transcript | NM_007194.4 |
gDNA | chr22:g.28689164A>T |
cDNA | c.1513T>A |
Protein | p.S505T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_007194.3 | chr22:g.28689164A>T | c.1513T>A | p.S505T | RefSeq | GRCh38/hg38 |
NM_007194 | chr22:g.28689164A>T | c.1513T>A | p.S505T | RefSeq | GRCh38/hg38 |
NM_007194.4 | chr22:g.28689164A>T | c.1513T>A | p.S505T | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|