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 | G49R |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | BRIP1 G49R lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). G49 does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), and therefore, is predicted to lead to a loss of Brip1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
BRIP1 mutant BRIP1 inact mut BRIP1 G49R |
Transcript | NM_032043.3 |
gDNA | chr17:g.61859856C>T |
cDNA | c.145G>A |
Protein | p.G49R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |