Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.S189L

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
2 papers
NM_032043.3
p.S189L
c.566C>T
Surrounding Variants
1 paper
NM_032043.3
p.G190E
c.569G>A
1 paper
NM_032043.3
p.S189_G190delFs
c.566_569del4
1 paper
NM_032043.3
p.V187A
c.560T>C
2 papers
NM_032043.3
p.K191R
c.572A>G
48 papers
NM_032043.3
p.V193I
c.577G>A
2 papers
NM_032043.3
p.A185P
c.553G>C
1 paper
NM_032043.3
p.A185T
c.553G>A
1 paper
NM_032043.3
p.D184A
c.551A>C
19 papers
NM_032043.3
p.D184Y
c.550G>T
2 papers
NM_032043.3
p.D184N
c.550G>A
1 paper
NM_032043.3
p.K194N
c.582A>T
1 paper
NM_032043.3
p.L195F
c.583C>T
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