Varaico: Literature-Extracted Genetic Variants

Gene:BBC3
Variant:p.A47V

BBC3

112 papers

RefSeq Summary

This gene encodes a member of the BCL-2 family of proteins. This family member belongs to the BH3-only pro-apoptotic subclass. The protein cooperates with direct activator proteins to induce mitochond...

Pfam Domains

PUMAaa 2–193UCSCBcl-2-binding component 3, p53 upregulated modulator of apoptosis

Gene Aliases

HGNC Name

BCL2 binding component 3

HGNC Alias Symbols

JFY1; PUMA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014417.5
p.A47V
c.140C>T
Surrounding Variants
1 paper
NM_014417.5
p.P51L
c.152C>T
1 paper
NM_014417.5
p.T52S
c.154A>T
1 paper
NM_014417.5
p.T52P
c.154A>C
1 paper
NM_014417.5
p.T52S
c.155C>G
1 paper
NM_014417.5
p.P42T
c.124C>A
1 paper
NM_014417.5
p.C40S
c.118T>A
1 paper
NM_014417.5
p.P55fs
c.163_164fs
1 paper
NM_014417.5
p.P55delFs
c.163delG
1 paper
NM_014417.5
p.G38S
c.112G>A
1 paper
NM_014417.5
p.V35V
c.105G>C
1 paper
NM_014417.5
p.S33A
c.97T>G
1 paper
NM_014417.5
p.P32R
c.95C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."