Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.P727S

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.P727S
c.2179C>T
Surrounding Variants
1 paper
NM_032043.3
p.P727T
c.2179C>A
2 papers
NM_032043.3
p.G729*
c.2185G>T
1 paper
NM_032043.3
p.V725I
c.2173G>A
1 paper
NM_032043.3
p.G730R
c.2188G>C
1 paper
NM_032043.3
p.G730R
c.2188G>A
1 paper
NM_032043.3
p.I724L
c.2170A>C
1 paper
NM_032043.3
p.V723G
c.2168T>G
1 paper
NM_032043.3
p.V723A
c.2168T>C
1 paper
NM_032043.3
p.E731Q
c.2191G>C
1 paper
NM_032043.3
p.V723I
c.2167G>A
1 paper
NM_032043.3
p.T722A
c.2164A>G
1 paper
NM_032043.3
p.K721N
c.2163G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."