Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.F176fs

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.F176fs
c.526_527fs
Surrounding Variants
1 paper
NM_032043.3
p.C175_F176insFs
c.525_526insC
3 papers
NM_032043.3
p.C175Y
c.524G>A
1 paper
NM_032043.3
p.G177R
c.529G>C
1 paper
NM_032043.3
p.G177R
c.529G>A
1 paper
NM_032043.3
p.G177E
c.530G>A
1 paper
NM_032043.3
p.R173delFs
c.518delC
1 paper
NM_032043.3
p.T178I
c.533C>T
1 paper
NM_032043.3
p.R173L
c.518G>T
2 papers
NM_032043.3
p.R173H
c.518G>A
54 papers
NM_032043.3
p.R173C
c.517C>T
1 paper
NM_032043.3
p.R173S
c.517C>A
1 paper
NM_032043.3
p.E179fs
c.535_536fs
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