Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.A62insFs

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.A62insFs
c.185_186insA
Surrounding Variants
1 paper
NM_032043.3
p.L61insFs
c.182_183insTT
1 paper
NM_032043.3
p.L61fs
c.181_182fs
7 papers
NM_032043.3
p.W63*
c.188G>A
3 papers
NM_032043.3
p.L61V
c.181T>G
7 papers
NM_032043.3
p.W63*
c.189G>A
1 paper
NM_032043.3
p.L54_A60del0
c.162_179del18
2 papers
NM_032043.3
p.Q64*
c.190C>T
5 papers
NM_032043.3
p.Q65*
c.193C>T
1 paper
NM_032043.3
p.Q65_S66insFs
c.195_196insC
1 paper
NM_032043.3
p.C58insFs
c.173dupG
1 paper
NM_032043.3
p.S66fs
c.196_197fs
1 paper
NM_032043.3
p.L56_L57delFs
c.168_171del4
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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."