Varaico: Literature-Extracted Genetic Variants

Gene:BBC3
Variant:p.R3C

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.R3C
c.7C>T
Surrounding Variants
1 paper
NM_014417.5
p.M1I
c.3G>T
1 paper
NM_014417.5
p.M1I
c.3G>C
1 paper
NM_014417.5
p.M1I
c.3G>A
1 paper
NM_014417.5
p.P11A
c.31C>G
1 paper
NM_014417.5
p.V14E
c.41T>A
1 paper
NM_014417.5
p.G16V
c.47G>T
1 paper
NM_014417.5
p.R29H
c.86G>A
1 paper
NM_014417.5
p.V31V
c.93G>A
1 paper
NM_014417.5
p.P32R
c.95C>G
1 paper
NM_014417.5
p.S33A
c.97T>G
1 paper
NM_014417.5
p.V35V
c.105G>C
1 paper
NM_014417.5
p.G38S
c.112G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."