Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.S380_M381Splc

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
2 papers
NM_032043.3
p.S380_M381Splc
c.1140+11G>A
Surrounding Variants
2 papers
NM_032043.3
p.S380_M381Splc
c.1140+1G>C
1 paper
NM_032043.3
p.S380N
c.1139G>A
2 papers
NM_032043.3
p.E379insFs
c.1135_1136insA
2 papers
NM_032043.3
p.R378S
c.1134G>T
2 papers
NM_032043.3
p.R378S
c.1134G>C
1 paper
NM_032043.3
p.R378K
c.1133G>A
2 papers
NM_032043.3
p.Q376delFs
c.1126_1127delTG
3 papers
NM_032043.3
p.Q376*
c.1126C>T
1 paper
NM_032043.3
p.Q376fs
c.1126_1127fs
1 paper
NM_032043.3
p.A375V
c.1124C>T
1 paper
NM_032043.3
p.A375_Q376insGTC
c.1123_1127ins9
1 paper
NM_032043.3
p.D374G
c.1121A>G
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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."