Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.I359fs

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.I359fs
c.1075_1076fs
Surrounding Variants
1 paper
NM_032043.3
p.I359delFs
c.1075delT
1 paper
NM_032043.3
p.I359fs
c.1075_1076fs
1 paper
NM_032043.3
p.L358delFs
c.1072_1073delAG
2 papers
NM_032043.3
p.L358P
c.1073T>C
1 paper
NM_032043.3
p.E357_L358del1
c.1070_1072delGTT
1 paper
NM_032043.3
p.D361fs
c.1081_1082fs
1 paper
NM_032043.3
p.D361Y
c.1081G>T
1 paper
NM_032043.3
p.E357insFs
c.1071dupA
2 papers
NM_032043.3
p.D361V
c.1082A>T
1 paper
NM_032043.3
p.D361delFs
c.1082delT
3 papers
NM_032043.3
p.E357*
c.1069G>T
1 paper
NM_032043.3
p.R356delFs
c.1066_1067delCG
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."