Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.G750delFs

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.G750delFs
c.2250delT
Surrounding Variants
3 papers
NM_032043.3
p.E751V
c.2252A>T
1 paper
NM_032043.3
p.G750V
c.2249G>T
2 papers
NM_032043.3
p.K752Q
c.2254A>C
1 paper
NM_032043.3
p.E751insFs
c.2253dupG
9 papers
NM_032043.3
p.K752fs
c.2254_2255fs
1 paper
NM_032043.3
p.K749N
c.2247A>T
1 paper
NM_032043.3
p.K752R
c.2255A>G
1 paper
NM_032043.3
p.K749N
c.2247A>C
1 paper
NM_032043.3
p.E751_K752delFs
c.2253_2254delTC
5 papers
NM_032043.3
p.K752fs
c.2254_2255fs
1 paper
NM_032043.3
p.D753Y
c.2257G>T
13 papers
NM_032043.3
p.K752delFs
c.2255_2256delTT
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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."