Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.E936G

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
Selected Variant
1 paper
NM_032043.3
p.E936G
c.2807A>G
Surrounding Variants
3 papers
NM_032043.3
p.D937Y
c.2809G>T
7 papers
NM_032043.3
p.V935G
c.2804T>G
1 paper
NM_032043.3
p.V935L
c.2803G>T
1 paper
NM_032043.3
p.V935L
c.2803G>C
1 paper
NM_032043.3
p.E936_D937delFs
c.2808_2811del4
1 paper
NM_032043.3
p.F934C
c.2801T>G
1 paper
NM_032043.3
p.E938G
c.2813A>G
1 paper
NM_032043.3
p.V935_D937del3
c.2803_2810del9
2 papers
NM_032043.3
p.F934V
c.2800T>G
1 paper
NM_032043.3
p.N933delFs
c.2798_2799delAT
1 paper
NM_032043.3
p.N933delFs
c.2798delT
1 paper
NM_032043.3
p.A939S
c.2815G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."