Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.I819L

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.I819L
c.2455A>C
Surrounding Variants
1 paper
NM_032043.3
p.E818D
c.2454A>T
1 paper
NM_032043.3
p.E818D
c.2454A>C
1 paper
NM_032043.3
p.Q820E
c.2458C>G
1 paper
NM_032043.3
p.Y817fs
c.2449_2450fs
1 paper
NM_032043.3
p.Q820R
c.2459A>G
1 paper
NM_032043.3
p.Y817C
c.2450A>G
1 paper
NM_032043.3
p.Y817H
c.2449T>C
1 paper
NM_032043.3
p.A821T
c.2461G>A
1 paper
NM_032043.3
p.W816C
c.2448G>T
1 paper
NM_032043.3
p.W816L
c.2447G>T
2 papers
NM_032043.3
p.Y822H
c.2464T>C
2 papers
NM_032043.3
p.Y822fs
c.2464_2465fs
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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."