Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.S38delFs

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.S38delFs
c.112_113delCT
Surrounding Variants
2 papers
NM_032043.3
p.S38I
c.113G>T
1 paper
NM_032043.3
p.S38_K39insG
c.112_116ins3
1 paper
NM_032043.3
p.N37I
c.110A>T
1 paper
NM_032043.3
p.N37S
c.110A>G
1 paper
NM_032043.3
p.N37insFs
c.109_110ins5
1 paper
NM_032043.3
p.G35_L36delFs
c.104_108del5
1 paper
NM_032043.3
p.L36F
c.108A>T
1 paper
NM_032043.3
p.L36F
c.108A>C
1 paper
NM_032043.3
p.H41Y
c.121C>T
1 paper
NM_032043.3
p.H41R
c.122A>G
1 paper
NM_032043.3
p.G35fs
c.103_104fs
1 paper
NM_032043.3
p.C42S
c.124T>A
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