Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.Y408_S409delFs

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.Y408_S409delFs
c.1224_1225delTG
Surrounding Variants
1 paper
NM_032043.3
p.S409fs
c.1225_1226fs
1 paper
NM_032043.3
p.S409G
c.1225A>G
1 paper
NM_032043.3
p.Y408*
c.1224C>G
1 paper
NM_032043.3
p.Y408*
c.1224C>A
1 paper
NM_032043.3
p.V410A
c.1229T>C
1 paper
NM_032043.3
p.Y408insFs
c.1223_1224insT
1 paper
NM_032043.3
p.T411A
c.1231A>G
1 paper
NM_032043.3
p.S407N
c.1220G>A
2 papers
NM_032043.3
p.T411I
c.1232C>T
1 paper
NM_032043.3
p.S407G
c.1219A>G
1 paper
NM_032043.3
p.E412insFs
c.1234_1235insC
1 paper
NM_032043.3
p.E412fs
c.1234_1235fs
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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."