Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.N734H

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
2 papers
NM_032043.3
p.N734H
c.2200A>C
Surrounding Variants
1 paper
NM_032043.3
p.T733insFs
c.2197dupA
2 papers
NM_032043.3
p.T733fs
c.2197_2198fs
1 paper
NM_032043.3
p.D736H
c.2206G>C
1 paper
NM_032043.3
p.E731Q
c.2191G>C
1 paper
NM_032043.3
p.E737G
c.2210A>G
1 paper
NM_032043.3
p.G730R
c.2188G>C
1 paper
NM_032043.3
p.G730R
c.2188G>A
1 paper
NM_032043.3
p.L738F
c.2214A>T
1 paper
NM_032043.3
p.L738F
c.2214A>C
2 papers
NM_032043.3
p.G729*
c.2185G>T
40 papers
NM_032043.3
p.Q740H
c.2220G>T
35 papers
NM_032043.3
p.Q740H
c.2220G>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."