Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.A828A

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.A828A
c.2484C>T
Surrounding Variants
3 papers
NM_032043.3
p.Q827*
c.2479C>T
1 paper
NM_032043.3
p.Q827K
c.2479C>A
3 papers
NM_032043.3
p.N826S
c.2477A>G
1 paper
NM_032043.3
p.R831Splc
c.2492+2T>C
1 paper
NM_032043.3
p.R831Splc
c.2492+5G>A
6 papers
NM_032043.3
p.R823S
c.2469G>T
6 papers
NM_032043.3
p.R823S
c.2469G>C
1 paper
NM_032043.3
p.Y822fs
c.2464_2465fs
1 paper
NM_032043.3
p.Y822C
c.2465A>G
4 papers
NM_032043.3
p.Y822insFs
c.2464dupT
2 papers
NM_032043.3
p.Y822H
c.2464T>C
2 papers
NM_032043.3
p.Y822fs
c.2464_2465fs
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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."