Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.S320delFs

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.S320delFs
c.958delT
Surrounding Variants
1 paper
NM_032043.3
p.S320T
c.959G>C
1 paper
NM_032043.3
p.S320N
c.959G>A
1 paper
NM_032043.3
p.S320fs
c.958_959fs
1 paper
NM_032043.3
p.D321N
c.961G>A
1 paper
NM_032043.3
p.I319T
c.956T>C
1 paper
NM_032043.3
p.D321A
c.962A>C
1 paper
NM_032043.3
p.Q322*
c.964C>T
1 paper
NM_032043.3
p.Q322R
c.965A>G
1 paper
NM_032043.3
p.K318T
c.953A>C
2 papers
NM_032043.3
p.H323Y
c.967C>T
1 paper
NM_032043.3
p.H317Y
c.949C>T
1 paper
NM_032043.3
p.V316G
c.947T>G
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."