Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.I430V

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.I430V
c.1288A>G
Surrounding Variants
1 paper
NM_032043.3
p.I430T
c.1289T>C
1 paper
NM_032043.3
p.M425_N428delFs
c.1275_1284del10
1 paper
NM_032043.3
p.K432*
c.1294A>T
1 paper
NM_032043.3
p.R431_K432insFs
c.1293_1294insG
2 papers
NM_032043.3
p.N427S
c.1280A>G
1 paper
NM_032043.3
p.V426F
c.1276G>T
1 paper
NM_032043.3
p.K433insFs
c.1299dupA
2 papers
NM_032043.3
p.H435Y
c.1303C>T
1 paper
NM_032043.3
p.H435Q
c.1305T>G
1 paper
NM_032043.3
p.H435Q
c.1305T>A
2 papers
NM_032043.3
p.S424N
c.1271G>A
1 paper
NM_032043.3
p.D423H
c.1267G>C
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