Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.Q208insFs

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.Q208insFs
c.623dupA
Surrounding Variants
1 paper
NM_032043.3
p.Q208*
c.622C>T
2 papers
NM_032043.3
p.K209R
c.626A>G
1 paper
NM_032043.3
p.K209_P210Splc
c.627+1G>A
1 paper
NM_032043.3
p.P207L
c.620C>T
1 paper
NM_032043.3
p.K209_P210Splc
c.627+2T>C
2 papers
NM_032043.3
p.S206L
c.617C>T
1 paper
NM_032043.3
p.S206*
c.617C>A
1 paper
NM_032043.3
p.K209_P210Splc
c.627+5G>A
1 paper
NM_032043.3
p.F205L
c.615T>G
1 paper
NM_032043.3
p.K209_P210Splc
c.627+6T>C
2 papers
NM_032043.3
p.F205L
c.615T>A
1 paper
NM_032043.3
p.F205L
c.613T>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."