BRIP1 P991A
Gene Variant Detail

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Gene BRIP1
Variant P991A
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions BRIP1 P991A lies within the BRCA1-interacting region of the Brip1 protein (UniProt.org). P991A confers a loss of function to the Brip1 protein as indicated by failure to interact with Brca1 and loss of Brip1 phosphorylation in culture (PMID: 14576433).
Associated Drug Resistance
Category Variants Paths

BRIP1 mutant BRIP1 inact mut BRIP1 P991A

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Transcript NM_032043.3
gDNA chr17:g.61684075G>C
cDNA c.2971C>G
Protein p.P991A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011525334 chr17:g.61684135G>C c.2971C>G p.P991A RefSeq GRCh38/hg38
XM_011525332.3 chr17:g.61684135G>C c.2971C>G p.P991A RefSeq GRCh38/hg38
NM_032043.3 chr17:g.61684075G>C c.2971C>G p.P991A RefSeq GRCh38/hg38
XM_011525335 chr17:g.61684075G>C c.2971C>G p.P991A RefSeq GRCh38/hg38
XM_047436892.1 chr17:g.61684075G>C c.2971C>G p.P991A RefSeq GRCh38/hg38
XM_047436891.1 chr17:g.61684075G>C c.2971C>G p.P991A RefSeq GRCh38/hg38
NM_032043 chr17:g.61684075G>C c.2971C>G p.P991A RefSeq GRCh38/hg38
XM_011525333.4 chr17:g.61684135G>C c.2971C>G p.P991A RefSeq GRCh38/hg38
XM_011525334.3 chr17:g.61684135G>C c.2971C>G p.P991A RefSeq GRCh38/hg38
XM_011525335.4 chr17:g.61684075G>C c.2971C>G p.P991A RefSeq GRCh38/hg38
XM_011525334.2 chr17:g.61684135G>C c.2971C>G p.P991A RefSeq GRCh38/hg38
NM_032043.2 chr17:g.61684075G>C c.2971C>G p.P991A RefSeq GRCh38/hg38
XM_011525333 chr17:g.61684135G>C c.2971C>G p.P991A RefSeq GRCh38/hg38
XM_011525332 chr17:g.61684135G>C c.2971C>G p.P991A RefSeq GRCh38/hg38
XM_011525333.3 chr17:g.61684135G>C c.2971C>G p.P991A RefSeq GRCh38/hg38
XM_011525335.3 chr17:g.61684075G>C c.2971C>G p.P991A RefSeq GRCh38/hg38
XM_011525332.4 chr17:g.61684135G>C c.2971C>G p.P991A RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • 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")

Sorting

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  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References