Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.R173S

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.R173S
c.517C>A
Surrounding Variants
54 papers
NM_032043.3
p.R173C
c.517C>T
1 paper
NM_032043.3
p.R173L
c.518G>T
2 papers
NM_032043.3
p.R173H
c.518G>A
1 paper
NM_032043.3
p.R173delFs
c.518delC
1 paper
NM_032043.3
p.K172*
c.514A>T
1 paper
NM_032043.3
p.R171T
c.512G>C
1 paper
NM_032043.3
p.R171G
c.511A>G
3 papers
NM_032043.3
p.C175Y
c.524G>A
1 paper
NM_032043.3
p.C175_F176insFs
c.525_526insC
1 paper
NM_032043.3
p.F176fs
c.526_527fs
1 paper
NM_032043.3
p.Q169_I170Splc
c.508-1G>T
2 papers
NM_032043.3
p.Q169_I170Splc
c.508-1G>C
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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."