Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.S66fs

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.S66fs
c.196_197fs
Surrounding Variants
1 paper
NM_032043.3
p.L67F
c.199C>T
1 paper
NM_032043.3
p.L67V
c.199C>G
1 paper
NM_032043.3
p.Q65_S66insFs
c.195_196insC
5 papers
NM_032043.3
p.Q65*
c.193C>T
1 paper
NM_032043.3
p.S68R
c.204T>G
1 paper
NM_032043.3
p.G69W
c.205G>T
4 papers
NM_032043.3
p.G69R
c.205G>A
2 papers
NM_032043.3
p.G69Splc
c.205+1G>C
2 papers
NM_032043.3
p.Q64*
c.190C>T
7 papers
NM_032043.3
p.W63*
c.189G>A
7 papers
NM_032043.3
p.W63*
c.188G>A
4 papers
NM_032043.3
p.G69Splc
c.205+5G>T
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