Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.Q740H

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
40 papers
NM_032043.3
p.Q740H
c.2220G>T
Surrounding Variants
35 papers
NM_032043.3
p.Q740H
c.2220G>C
1 paper
NM_032043.3
p.Y742S
c.2225A>C
2 papers
NM_032043.3
p.V741_Y742ins0
c.2223_2225dupGTA
1 paper
NM_032043.3
p.L738F
c.2214A>T
1 paper
NM_032043.3
p.L738F
c.2214A>C
2 papers
NM_032043.3
p.Y743C
c.2228A>G
1 paper
NM_032043.3
p.Y743*
c.2229T>G
1 paper
NM_032043.3
p.Y743Y
c.2229T>C
1 paper
NM_032043.3
p.Y743*
c.2229T>A
1 paper
NM_032043.3
p.E737G
c.2210A>G
1 paper
NM_032043.3
p.D744D
c.2232C>T
24 papers
NM_032043.3
p.A745T
c.2233G>A
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