Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.Q869*

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
3 papers
NM_032043.3
p.Q869*
c.2605C>T
Surrounding Variants
1 paper
NM_032043.3
p.Q869Q
c.2607G>A
3 papers
NM_032043.3
p.Q869delFs
c.2606delT
1 paper
NM_032043.3
p.H870Y
c.2608C>T
1 paper
NM_032043.3
p.Q867L
c.2600A>T
1 paper
NM_032043.3
p.Q867*
c.2599C>T
1 paper
NM_032043.3
p.H871D
c.2611C>G
1 paper
NM_032043.3
p.S872_T873insC
c.2614_2618ins3
1 paper
NM_032043.3
p.Q866fs
c.2596_2597fs
1 paper
NM_032043.3
p.S872*
c.2615C>G
1 paper
NM_032043.3
p.S872*
c.2615C>A
7 papers
NM_032043.3
p.R865Q
c.2594G>A
11 papers
NM_032043.3
p.R865W
c.2593C>T
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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."