Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.L807delFs

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.L807delFs
c.2420delA
Surrounding Variants
1 paper
NM_032043.3
p.L807F
c.2421G>T
1 paper
NM_032043.3
p.L807F
c.2421G>C
1 paper
NM_032043.3
p.L807*
c.2420T>A
2 papers
NM_032043.3
p.R808I
c.2423G>T
1 paper
NM_032043.3
p.R808T
c.2423G>C
1 paper
NM_032043.3
p.R808K
c.2423G>A
1 paper
NM_032043.3
p.G809S
c.2425G>A
4 papers
NM_032043.3
p.G809D
c.2426G>A
1 paper
NM_032043.3
p.S805L
c.2414C>T
1 paper
NM_032043.3
p.S805*
c.2414C>G
1 paper
NM_032043.3
p.L810I
c.2428C>A
1 paper
NM_032043.3
p.S805*
c.2414C>A
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