Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.L881S

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.L881S
c.2642T>C
Surrounding Variants
1 paper
NM_032043.3
p.A882T
c.2644G>A
1 paper
NM_032043.3
p.S880fs
c.2638_2639fs
2 papers
NM_032043.3
p.E883K
c.2647G>A
20 papers
NM_032043.3
p.E879E
c.2637A>G
1 paper
NM_032043.3
p.E879_S880insFs
c.2637_2638insG
1 paper
NM_032043.3
p.F874_E879delFs
c.2621_2636del16
1 paper
NM_032043.3
p.E879delFs
c.2635delC
1 paper
NM_032043.3
p.L878P
c.2633T>C
1 paper
NM_032043.3
p.A877P
c.2629G>C
1 paper
NM_032043.3
p.A877T
c.2629G>A
1 paper
NM_032043.3
p.K886*
c.2656A>T
1 paper
NM_032043.3
p.S876I
c.2627G>T
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