Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.V193I

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
48 papers
NM_032043.3
p.V193I
c.577G>A
Surrounding Variants
1 paper
NM_032043.3
p.K194N
c.582A>T
2 papers
NM_032043.3
p.K191R
c.572A>G
1 paper
NM_032043.3
p.L195F
c.583C>T
1 paper
NM_032043.3
p.L195_N196insC
c.583_587ins3
1 paper
NM_032043.3
p.K194delFs
c.580delT
1 paper
NM_032043.3
p.K194delFs
c.580_581delTT
18 papers
NM_032043.3
p.L195P
c.584T>C
1 paper
NM_032043.3
p.S189_G190delFs
c.566_569del4
1 paper
NM_032043.3
p.G190E
c.569G>A
30 papers
NM_032043.3
p.N196S
c.587A>G
2 papers
NM_032043.3
p.S189L
c.566C>T
1 paper
NM_032043.3
p.S197P
c.589T>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."