Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.D400G

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.D400G
c.1199A>G
Surrounding Variants
4 papers
NM_032043.3
p.D400Y
c.1198G>T
1 paper
NM_032043.3
p.E399D
c.1197G>T
1 paper
NM_032043.3
p.E399D
c.1197G>C
5 papers
NM_032043.3
p.E399K
c.1195G>A
1 paper
NM_032043.3
p.A402fs
c.1204_1205fs
1 paper
NM_032043.3
p.I398I
c.1194C>T
3 papers
NM_032043.3
p.C401_A402insFs
c.1201_1204dup4
1 paper
NM_032043.3
p.C401_A402delFs
c.1203_1204delCA
2 papers
NM_032043.3
p.A402fs
c.1204_1205fs
8 papers
NM_032043.3
p.R403W
c.1207C>T
7 papers
NM_032043.3
p.R403Q
c.1208G>A
1 paper
NM_032043.3
p.E404K
c.1210G>A
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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."