Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.R899*

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.R899*
c.2695A>T
Surrounding Variants
1 paper
NM_032043.3
p.D898N
c.2692G>A
2 papers
NM_032043.3
p.K897del1
c.2689_2691delCTT
2 papers
NM_032043.3
p.S895_I896del2
c.2683_2687del6
18 papers
NM_032043.3
p.S895_I896delFs
c.2684_2687del4
5 papers
NM_032043.3
p.I896V
c.2686A>G
1 paper
NM_032043.3
p.I896insFs
c.2686_2687insT
2 papers
NM_032043.3
p.S895fs
c.2683_2684fs
1 paper
NM_032043.3
p.S895F
c.2684C>T
1 paper
NM_032043.3
p.S895fs
c.2683_2684fs
1 paper
NM_032043.3
p.V894E
c.2681T>A
1 paper
NM_032043.3
p.V894L
c.2680G>T
1 paper
NM_032043.3
p.V894L
c.2680G>C
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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."