Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.L914S

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.L914S
c.2741T>C
Surrounding Variants
3 papers
NM_032043.3
p.S913F
c.2738C>T
1 paper
NM_032043.3
p.S913A
c.2737T>G
1 paper
NM_032043.3
p.K915fs
c.2743_2744fs
1 paper
NM_032043.3
p.T912fs
c.2734_2735fs
1 paper
NM_032043.3
p.Y916C
c.2747A>G
1 paper
NM_032043.3
p.T912fs
c.2734_2735fs
5 papers
NM_032043.3
p.V911insFs
c.2732dupT
1 paper
NM_032043.3
p.S917G
c.2749A>G
1 paper
NM_032043.3
p.L914_S917delFs
c.2742_2749del8
1 paper
NM_032043.3
p.T918A
c.2752A>G
1 paper
NM_032043.3
p.T918I
c.2753C>T
1 paper
NM_032043.3
p.T918N
c.2753C>A
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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."