Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.A355V

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.A355V
c.1064C>T
Surrounding Variants
1 paper
NM_032043.3
p.A355G
c.1064C>G
3 papers
NM_032043.3
p.A355T
c.1063G>A
27 papers
NM_032043.3
p.R356*
c.1066C>T
1 paper
NM_032043.3
p.R356G
c.1066C>G
1 paper
NM_032043.3
p.R356L
c.1067G>T
1 paper
NM_032043.3
p.R356Q
c.1067G>A
1 paper
NM_032043.3
p.R356delFs
c.1066delG
2 papers
NM_032043.3
p.T354I
c.1061C>T
1 paper
NM_032043.3
p.R356delFs
c.1066_1067delCG
3 papers
NM_032043.3
p.E357*
c.1069G>T
1 paper
NM_032043.3
p.Y353*
c.1059C>G
1 paper
NM_032043.3
p.Y353insFs
c.1058dupA
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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."