Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.K52R

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
41 papers
NM_032043.3
p.K52R
c.155A>G
Surrounding Variants
1 paper
NM_032043.3
p.S53_L54insT
c.157_161ins3
1 paper
NM_032043.3
p.G51V
c.152G>T
1 paper
NM_032043.3
p.G51insFs
c.153dupA
1 paper
NM_032043.3
p.G51*
c.151G>T
1 paper
NM_032043.3
p.G51R
c.151G>A
2 papers
NM_032043.3
p.L54*
c.161T>G
2 papers
NM_032043.3
p.L54*
c.161T>A
1 paper
NM_032043.3
p.A55_L56insT
c.163_167ins3
2 papers
NM_032043.3
p.A55T
c.163G>A
1 paper
NM_032043.3
p.A55fs
c.163_164fs
1 paper
NM_032043.3
p.G49E
c.146G>A
1 paper
NM_032043.3
p.A55delFs
c.163delC
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