Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.Y822H

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.Y822H
c.2464T>C
Surrounding Variants
2 papers
NM_032043.3
p.Y822fs
c.2464_2465fs
1 paper
NM_032043.3
p.Y822C
c.2465A>G
4 papers
NM_032043.3
p.Y822insFs
c.2464dupT
1 paper
NM_032043.3
p.Y822fs
c.2464_2465fs
1 paper
NM_032043.3
p.A821T
c.2461G>A
6 papers
NM_032043.3
p.R823S
c.2469G>T
6 papers
NM_032043.3
p.R823S
c.2469G>C
1 paper
NM_032043.3
p.Q820R
c.2459A>G
1 paper
NM_032043.3
p.Q820E
c.2458C>G
1 paper
NM_032043.3
p.I819L
c.2455A>C
1 paper
NM_032043.3
p.E818D
c.2454A>T
1 paper
NM_032043.3
p.E818D
c.2454A>C
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