Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.L704*

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
4 papers
NM_032043.3
p.L704*
c.2111T>A
Surrounding Variants
4 papers
NM_032043.3
p.L704*
c.2111T>G
1 paper
NM_032043.3
p.L704S
c.2111T>C
1 paper
NM_032043.3
p.L704fs
c.2110_2111fs
2 papers
NM_032043.3
p.K703_L704insFs
c.2109_2110insCC
6 papers
NM_032043.3
p.K703fs
c.2107_2108fs
1 paper
NM_032043.3
p.K705fs
c.2113_2114fs
6 papers
NM_032043.3
p.K703I
c.2108A>T
9 papers
NM_032043.3
p.K703Fs
c.2108delinsTCCFs
6 papers
NM_032043.3
p.K703insFs
c.2108_2109insCC
1 paper
NM_032043.3
p.K703Q
c.2107A>C
3 papers
NM_032043.3
p.K703fs
c.2107_2108fs
2 papers
NM_032043.3
p.E702*
c.2104G>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."