Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.I365V

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
2 papers
NM_032043.3
p.I365V
c.1093A>G
Surrounding Variants
1 paper
NM_032043.3
p.I365T
c.1094T>C
1 paper
NM_032043.3
p.I365M
c.1095A>G
2 papers
NM_032043.3
p.I359_I365del0
c.1075_1095del21
1 paper
NM_032043.3
p.I364V
c.1090A>G
1 paper
NM_032043.3
p.F366S
c.1097T>C
1 paper
NM_032043.3
p.C367R
c.1099T>C
1 paper
NM_032043.3
p.D363N
c.1087G>A
1 paper
NM_032043.3
p.C367*
c.1101T>A
1 paper
NM_032043.3
p.C367delFs
c.1100delC
1 paper
NM_032043.3
p.D361delFs
c.1082delT
1 paper
NM_032043.3
p.P368L
c.1103C>T
2 papers
NM_032043.3
p.D361V
c.1082A>T
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