Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.S927R

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.S927R
c.2781T>G
Surrounding Variants
1 paper
NM_032043.3
p.S927R
c.2781T>A
1 paper
NM_032043.3
p.S927R
c.2779A>C
1 paper
NM_032043.3
p.L929L
c.2785C>T
1 paper
NM_032043.3
p.L929fs
c.2785_2786fs
1 paper
NM_032043.3
p.A926T
c.2776G>A
1 paper
NM_032043.3
p.L929fs
c.2785_2786fs
1 paper
NM_032043.3
p.A925G
c.2774C>G
1 paper
NM_032043.3
p.A925E
c.2774C>A
1 paper
NM_032043.3
p.L923_E924del2
c.2767_2771del6
1 paper
NM_032043.3
p.S930L
c.2789C>T
1 paper
NM_032043.3
p.S930fs
c.2788_2789fs
3 papers
NM_032043.3
p.L929_S930delFs
c.2786_2789del4
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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."