Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.S206*

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.S206*
c.617C>A
Surrounding Variants
2 papers
NM_032043.3
p.S206L
c.617C>T
1 paper
NM_032043.3
p.F205L
c.615T>G
2 papers
NM_032043.3
p.F205L
c.615T>A
1 paper
NM_032043.3
p.P207L
c.620C>T
1 paper
NM_032043.3
p.F205L
c.613T>C
1 paper
NM_032043.3
p.Q208*
c.622C>T
3 papers
NM_032043.3
p.S204Y
c.611C>A
1 paper
NM_032043.3
p.S204A
c.610T>G
1 paper
NM_032043.3
p.Q208insFs
c.623dupA
1 paper
NM_032043.3
p.N203K
c.609C>G
1 paper
NM_032043.3
p.N203fs
c.607_608fs
1 paper
NM_032043.3
p.N203K
c.609C>A
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