BRIP1 P785L
Gene Variant Detail

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Gene BRIP1
Variant P785L
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions BRIP1 P785L does not lie within any known functional domains of the Brip1 protein (UniProt.org). P785L 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 P785L

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Transcript NM_032043.3
gDNA chr17:g.61743038G>A
cDNA c.2354C>T
Protein p.P785L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047436892.1 chr17:g.61743038G>A c.2354C>T p.P785L RefSeq GRCh38/hg38
XM_011525335.4 chr17:g.61743038G>A c.2354C>T p.P785L RefSeq GRCh38/hg38
XM_011525335.3 chr17:g.61743038G>A c.2354C>T p.P785L RefSeq GRCh38/hg38
XM_047436897.1 chr17:g.61743038G>A c.2354C>T p.P785L RefSeq GRCh38/hg38
XM_047436896.1 chr17:g.61743038G>A c.2354C>T p.P785L RefSeq GRCh38/hg38
XM_047436891.1 chr17:g.61743038G>A c.2354C>T p.P785L RefSeq GRCh38/hg38
XM_047436901.1 chr17:g.61743038G>A c.2354C>T p.P785L RefSeq GRCh38/hg38
XM_047436899.1 chr17:g.61743038G>A c.2354C>T p.P785L RefSeq GRCh38/hg38
XM_047436900.1 chr17:g.61743038G>A c.2354C>T p.P785L RefSeq GRCh38/hg38
NM_032043.3 chr17:g.61743038G>A c.2354C>T p.P785L RefSeq GRCh38/hg38
NM_032043.2 chr17:g.61743038G>A c.2354C>T p.P785L 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 )
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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries