Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.H396R

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.H396R
c.1187A>G
Surrounding Variants
1 paper
NM_032043.3
p.H396L
c.1187A>T
1 paper
NM_032043.3
p.H396Y
c.1186C>T
7 papers
NM_032043.3
p.H396D
c.1186C>G
1 paper
NM_032043.3
p.H396insFs
c.1186_1187insGG
1 paper
NM_032043.3
p.A395V
c.1184C>T
1 paper
NM_032043.3
p.A395_H396insA
c.1183_1187ins3
2 papers
NM_032043.3
p.A395T
c.1183G>A
1 paper
NM_032043.3
p.I398I
c.1194C>T
5 papers
NM_032043.3
p.E399K
c.1195G>A
2 papers
NM_032043.3
p.D393V
c.1178A>T
1 paper
NM_032043.3
p.E399D
c.1197G>T
1 paper
NM_032043.3
p.D393Y
c.1177G>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."