Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.E200K

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.E200K
c.598G>A
Surrounding Variants
1 paper
NM_032043.3
p.K201N
c.603G>T
1 paper
NM_032043.3
p.K201N
c.603G>C
1 paper
NM_032043.3
p.E200delFs
c.599_600delTT
1 paper
NM_032043.3
p.P198S
c.592C>T
1 paper
NM_032043.3
p.I202V
c.604A>G
1 paper
NM_032043.3
p.S197F
c.590C>T
1 paper
NM_032043.3
p.S197C
c.590C>G
2 papers
NM_032043.3
p.S197Y
c.590C>A
1 paper
NM_032043.3
p.S197P
c.589T>C
1 paper
NM_032043.3
p.N203fs
c.607_608fs
1 paper
NM_032043.3
p.N203K
c.609C>G
1 paper
NM_032043.3
p.N203fs
c.607_608fs
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