Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.R814C

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
40 papers
NM_032043.3
p.R814C
c.2440C>T
Surrounding Variants
1 paper
NM_032043.3
p.R814G
c.2440C>G
6 papers
NM_032043.3
p.R814H
c.2441G>A
1 paper
NM_032043.3
p.G813S
c.2437G>A
1 paper
NM_032043.3
p.Q815*
c.2443C>T
1 paper
NM_032043.3
p.G813fs
c.2437_2438fs
1 paper
NM_032043.3
p.P812insFs
c.2435_2436ins4
2 papers
NM_032043.3
p.P812fs
c.2434_2435fs
1 paper
NM_032043.3
p.W816L
c.2447G>T
1 paper
NM_032043.3
p.L811L
c.2433A>G
3 papers
NM_032043.3
p.L811insFs
c.2431_2432dupCT
1 paper
NM_032043.3
p.W816C
c.2448G>T
1 paper
NM_032043.3
p.Y817H
c.2449T>C
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