Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.P47H

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.P47H
c.140C>A
Surrounding Variants
1 paper
NM_032043.3
p.P47L
c.140C>T
91 papers
NM_032043.3
p.P47A
c.139C>G
1 paper
NM_032043.3
p.P47fs
c.139_140fs
3 papers
NM_032043.3
p.P47T
c.139C>A
2 papers
NM_032043.3
p.S46S
c.138T>C
1 paper
NM_032043.3
p.S46delFs
c.136_137delCT
10 papers
NM_032043.3
p.P47delFs
c.141delG
1 paper
NM_032043.3
p.T48fs
c.142_143fs
1 paper
NM_032043.3
p.S46I
c.137G>T
2 papers
NM_032043.3
p.S46T
c.137G>C
2 papers
NM_032043.3
p.T48I
c.143C>T
15 papers
NM_032043.3
p.T48T
c.144A>T
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