Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.R798*

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
167 papers
NM_032043.3
p.R798*
c.2392C>T
Surrounding Variants
1 paper
NM_032043.3
p.K797delFs
c.2390delT
2 papers
NM_032043.3
p.R798insFs
c.2393_2394insCT
3 papers
NM_032043.3
p.R798Q
c.2393G>A
2 papers
NM_032043.3
p.K797R
c.2390A>G
1 paper
NM_032043.3
p.K797Q
c.2389A>C
2 papers
NM_032043.3
p.Y800H
c.2398T>C
1 paper
NM_032043.3
p.V794_E795delFs
c.2380_2384del5
25 papers
NM_032043.3
p.Y800*
c.2400C>G
24 papers
NM_032043.3
p.Y800*
c.2400C>A
3 papers
NM_032043.3
p.E795*
c.2383G>T
2 papers
NM_032043.3
p.N801S
c.2402A>G
1 paper
NM_032043.3
p.V794fs
c.2380_2381fs
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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."