Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1

BRIP1

1,648 papers

RefSeq Summary

The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-...

Pfam Domains

DEAD_2aa 248–415UCSCDEAD_2
Helicase_C_2aa 680–867UCSCHelicase C-terminal domain

Gene Aliases

HGNC Name

BRCA1 interacting DNA helicase 1

HGNC Alias Symbols

OF; FANCJ

Papers
RefSeq ID
Protein change
DNA change
1–12 of 2170 variants
167 papers
NM_032043.3
p.R798*
c.2392C>T
91 papers
NM_032043.3
p.P47A
c.139C>G
71 papers
NM_032043.3
p.S919P
c.2755T>C
54 papers
NM_032043.3
p.R173C
c.517C>T
53 papers
NM_032043.3
p.A349P
c.1045G>C
48 papers
NM_032043.3
p.V193I
c.577G>A
41 papers
NM_032043.3
p.K52R
c.155A>G
40 papers
NM_032043.3
p.Q740H
c.2220G>T
40 papers
NM_032043.3
p.R814C
c.2440C>T
38 papers
NM_032043.3
p.Q944E
c.2830C>G
36 papers
NM_032043.3
p.R419W
c.1255C>T
35 papers
NM_032043.3
p.Q740H
c.2220G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."