BRIP1 D736H
Gene Variant Detail

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Gene BRIP1
Variant D736H
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions BRIP1 D736H does not lie within any known functional domains of the Brip1 protein (UniProt.org). D736H retains binding to Brca1, Blm, and Mlh1 and results in G4 DNA unwinding activity similar to wild-type Brip1, but demonstrates decreased activity on canonical forked duplex DNA, reduced And1 binding, and decreased suppression of DNA damage in cell culture (PMID: 38177925).
Associated Drug Resistance
Category Variants Paths

BRIP1 mutant BRIP1 inact mut BRIP1 D736H

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Transcript NM_032043.3
gDNA chr17:g.61744483C>G
cDNA c.2206G>C
Protein p.D736H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011525335.3 chr17:g.61744483C>G c.2206G>C p.D736H RefSeq GRCh38/hg38
NM_032043 chr17:g.61744483C>G c.2206G>C p.D736H RefSeq GRCh38/hg38
XM_047436901.1 chr17:g.61744483C>G c.2206G>C p.D736H RefSeq GRCh38/hg38
XM_011525335.4 chr17:g.61744483C>G c.2206G>C p.D736H RefSeq GRCh38/hg38
XM_047436900.1 chr17:g.61744483C>G c.2206G>C p.D736H RefSeq GRCh38/hg38
NM_032043.3 chr17:g.61744483C>G c.2206G>C p.D736H RefSeq GRCh38/hg38
XM_047436897.1 chr17:g.61744483C>G c.2206G>C p.D736H RefSeq GRCh38/hg38
XM_047436896.1 chr17:g.61744483C>G c.2206G>C p.D736H RefSeq GRCh38/hg38
XM_047436899.1 chr17:g.61744483C>G c.2206G>C p.D736H RefSeq GRCh38/hg38
XM_011525335 chr17:g.61744483C>G c.2206G>C p.D736H RefSeq GRCh38/hg38
NM_032043.2 chr17:g.61744483C>G c.2206G>C p.D736H RefSeq GRCh38/hg38
XM_047436892.1 chr17:g.61744483C>G c.2206G>C p.D736H RefSeq GRCh38/hg38
XM_047436891.1 chr17:g.61744483C>G c.2206G>C p.D736H RefSeq 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")

Sorting

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Molecular Profile Protein Effect Treatment Approaches
BRIP1 D736H loss of function