Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.F312del1

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.F312del1
c.934_935delAAA
Surrounding Variants
1 paper
NM_032043.3
p.Y313insFs
c.937dupT
2 papers
NM_032043.3
p.Y313*
c.939T>G
2 papers
NM_032043.3
p.Y313*
c.939T>A
1 paper
NM_032043.3
p.Y313fs
c.937_938fs
1 paper
NM_032043.3
p.Y311fs
c.931_932fs
2 papers
NM_032043.3
p.Y311delFs
c.932delT
2 papers
NM_032043.3
p.Y311C
c.932A>G
1 paper
NM_032043.3
p.C310del1
c.928_929delGCA
1 paper
NM_032043.3
p.C310insFs
c.929dupG
1 paper
NM_032043.3
p.V316G
c.947T>G
1 paper
NM_032043.3
p.H317Y
c.949C>T
1 paper
NM_032043.3
p.S309F
c.926C>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."