Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.Q944E

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
38 papers
NM_032043.3
p.Q944E
c.2830C>G
Surrounding Variants
4 papers
NM_032043.3
p.Q944*
c.2830C>T
1 paper
NM_032043.3
p.V943V
c.2829C>T
2 papers
NM_032043.3
p.V943fs
c.2827_2828fs
2 papers
NM_032043.3
p.Q944P
c.2831A>C
2 papers
NM_032043.3
p.Q944delFs
c.2830delG
2 papers
NM_032043.3
p.Q944fs
c.2830_2831fs
2 papers
NM_032043.3
p.I941_C942insFs
c.2823_2826dup4
1 paper
NM_032043.3
p.C942Y
c.2825G>A
1 paper
NM_032043.3
p.K940_E945del0
c.2818_2835del18
1 paper
NM_032043.3
p.Q947fs
c.2839_2840fs
1 paper
NM_032043.3
p.I941V
c.2821A>G
1 paper
NM_032043.3
p.Q947R
c.2840A>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."