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 | Y461* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | BRIP1 Y461* results in a premature truncation of the Brip1 protein at amino acid 461 of 1249 (UniProt.org). Y461* 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 Y461* |
Transcript | NM_032043.3 |
gDNA | chr17:g.61793687A>T |
cDNA | c.1383T>A |
Protein | p.Y461* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |