Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.D184A

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.D184A
c.551A>C
Surrounding Variants
19 papers
NM_032043.3
p.D184Y
c.550G>T
2 papers
NM_032043.3
p.D184N
c.550G>A
2 papers
NM_032043.3
p.A185P
c.553G>C
1 paper
NM_032043.3
p.A185T
c.553G>A
1 paper
NM_032043.3
p.N182K
c.546T>A
1 paper
NM_032043.3
p.N182_L183insTT
c.544_548ins6
1 paper
NM_032043.3
p.V187A
c.560T>C
1 paper
NM_032043.3
p.H181Y
c.541C>T
1 paper
NM_032043.3
p.F176_E179delFs
c.526_536del11
2 papers
NM_032043.3
p.S189L
c.566C>T
4 papers
NM_032043.3
p.E179G
c.536A>G
1 paper
NM_032043.3
p.E179fs
c.535_536fs
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