Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.E706delFs

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.E706delFs
c.2117delT
Surrounding Variants
15 papers
NM_032043.3
p.R707C
c.2119C>T
1 paper
NM_032043.3
p.K705_E706delFs
c.2114_2118del5
2 papers
NM_032043.3
p.R707L
c.2120G>T
1 paper
NM_032043.3
p.W708*
c.2123G>A
1 paper
NM_032043.3
p.W708C
c.2124G>T
1 paper
NM_032043.3
p.W708C
c.2124G>C
1 paper
NM_032043.3
p.W708*
c.2124G>A
1 paper
NM_032043.3
p.K705fs
c.2113_2114fs
1 paper
NM_032043.3
p.L709R
c.2126T>G
4 papers
NM_032043.3
p.L704*
c.2111T>G
1 paper
NM_032043.3
p.L704S
c.2111T>C
4 papers
NM_032043.3
p.L704*
c.2111T>A
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