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 | M299I |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | BRIP1 M299I lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). The functional effect of M299I is conflicting, as it has been reported to confer a loss of Brip1 DNA helicase activity in one study (PMID: 14983014), and to enhance DNA helicase activity in other studies (PMID: 32542039, PMID: 17145708). |
Associated Drug Resistance | |
Category Variants Paths |
BRIP1 mutant BRIP1 M299I |
Transcript | NM_032043.3 |
gDNA | chr17:g.61808488C>G |
cDNA | c.897G>C |
Protein | p.M299I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |