Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.W708*

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.W708*
c.2123G>A
Surrounding Variants
1 paper
NM_032043.3
p.W708C
c.2124G>T
1 paper
NM_032043.3
p.W708C
c.2124G>C
1 paper
NM_032043.3
p.W708*
c.2124G>A
1 paper
NM_032043.3
p.L709R
c.2126T>G
2 papers
NM_032043.3
p.R707L
c.2120G>T
15 papers
NM_032043.3
p.R707C
c.2119C>T
1 paper
NM_032043.3
p.E706delFs
c.2117delT
1 paper
NM_032043.3
p.K705_E706delFs
c.2114_2118del5
1 paper
NM_032043.3
p.T711S
c.2131A>T
3 papers
NM_032043.3
p.T711A
c.2131A>G
1 paper
NM_032043.3
p.T711S
c.2132C>G
1 paper
NM_032043.3
p.K705fs
c.2113_2114fs
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."