Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.I746_Y748delFs

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.I746_Y748delFs
c.2238_2242del5
Surrounding Variants
1 paper
NM_032043.3
p.Y748C
c.2243A>G
13 papers
NM_032043.3
p.Y748*
c.2244C>G
12 papers
NM_032043.3
p.Y748*
c.2244C>A
2 papers
NM_032043.3
p.I746_K747delFs
c.2237_2240del4
1 paper
NM_032043.3
p.K749N
c.2247A>T
1 paper
NM_032043.3
p.K749N
c.2247A>C
1 paper
NM_032043.3
p.I746I
c.2238C>T
1 paper
NM_032043.3
p.G750V
c.2249G>T
1 paper
NM_032043.3
p.I746fs
c.2236_2237fs
8 papers
NM_032043.3
p.I746V
c.2236A>G
1 paper
NM_032043.3
p.G750delFs
c.2250delT
1 paper
NM_032043.3
p.A745V
c.2234C>T
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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."