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 | BRIP1 |
Variant | G690E |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | BRIP1 G690E lies within the helicase domain IV of the Brip1 protein (PMID: 20639400). G690E demonstrates reduced protein stability and fails to rescue mitomycin-induced DNA cross-linking damage in cell culture (PMID: 31822495, PMID: 33619228). |
Associated Drug Resistance | |
Category Variants Paths |
BRIP1 mutant BRIP1 inact mut BRIP1 G690E |
Transcript | NM_032043.3 |
gDNA | chr17:g.61776429C>T |
cDNA | c.2069G>A |
Protein | p.G690E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |