Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.V720L

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.V720L
c.2158G>C
Surrounding Variants
1 paper
NM_032043.3
p.V720L
c.2158G>T
1 paper
NM_032043.3
p.V720M
c.2158G>A
1 paper
NM_032043.3
p.V720del1
c.2158_2159delCAC
1 paper
NM_032043.3
p.K721N
c.2163G>T
1 paper
NM_032043.3
p.K721N
c.2163G>C
1 paper
NM_032043.3
p.E718G
c.2153A>G
1 paper
NM_032043.3
p.T722A
c.2164A>G
1 paper
NM_032043.3
p.L717P
c.2150T>C
1 paper
NM_032043.3
p.V723I
c.2167G>A
2 papers
NM_032043.3
p.L717V
c.2149C>G
1 paper
NM_032043.3
p.V723G
c.2168T>G
1 paper
NM_032043.3
p.V723A
c.2168T>C
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."