Varaico: Literature-Extracted Genetic Variants

Gene:BOK
Variant:p.V84delFs

BOK

31 papers

RefSeq Summary

The protein encoded by this gene belongs to the BCL2 family, members of which form homo- or heterodimers, and act as anti- or proapoptotic regulators that are involved in a wide variety of cellular pr...

Pfam Domains

Bcl-2aa 70–171UCSCApoptosis regulator proteins, Bcl-2 family

Gene Aliases

HGNC Name

BCL2 family apoptosis regulator BOK

HGNC Alias Symbols

BCL2L9; BOKL; MGC4631

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032515.5
p.V84delFs
c.252delC
Surrounding Variants
2 papers
NM_032515.5
p.R86C
c.256C>T
1 paper
NM_032515.5
p.V88A
c.263T>C
1 paper
NM_032515.5
p.E78D
c.234G>C
1 paper
NM_032515.5
p.E78D
c.234G>T
1 paper
NM_032515.5
p.L96V
c.286C>G
1 paper
NM_032515.5
p.A110V
c.329C>T
1 paper
NM_032515.5
p.R45S
c.133C>A
1 paper
NM_032515.5
p.R45C
c.133C>T
1 paper
NM_032515.5
p.E37*
c.109G>T
1 paper
NM_032515.5
p.A29G
c.86C>G
1 paper
NM_032515.5
p.V28fs
c.82_83fs
1 paper
NM_032515.5
p.L27insFs
c.80_81ins40
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