Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.I337V

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
3 papers
NM_032043.3
p.I337V
c.1009A>G
Surrounding Variants
1 paper
NM_032043.3
p.I337T
c.1010T>C
1 paper
NM_032043.3
p.K333_D336delFs
c.998_1007del10
2 papers
NM_032043.3
p.E338K
c.1012G>A
1 paper
NM_032043.3
p.W335C
c.1005G>T
1 paper
NM_032043.3
p.W335C
c.1005G>C
1 paper
NM_032043.3
p.W335*
c.1005G>A
1 paper
NM_032043.3
p.W335L
c.1004G>T
1 paper
NM_032043.3
p.W335*
c.1004G>A
1 paper
NM_032043.3
p.E338D
c.1014A>T
1 paper
NM_032043.3
p.E338D
c.1014A>C
1 paper
NM_032043.3
p.W335Fs
c.1003delinsGAFs
4 papers
NM_032043.3
p.E339*
c.1015G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."