BRIP1 P47A
Gene Variant Detail

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Gene BRIP1
Variant P47A
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions BRIP1 P47A lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). P47A partially rescues mitomycin-induced DNA cross-linking damage in cell culture (PMID: 31822495) and results in a loss of ATPase (PMID: 11301010, PMID: 14983014) and helicase activity (PMID: 11301010, PMID: 14983014, PMID: 33028645), and leads to greater chromosomal aberrations and cell cycle effects compared to wild-type Brip1 in culture (PMID: 31822495), 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 P47A

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Transcript NM_032043.3
gDNA chr17:g.61859862G>C
cDNA c.139C>G
Protein p.P47A
Source Database RefSeq
Genome Build GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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