Varaico: Literature-Extracted Genetic Variants

Gene:BBC3
Variant:p.R127C

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.R127C
c.379C>T
Surrounding Variants
1 paper
NM_014417.5
p.R127P
c.380G>C
1 paper
NM_014417.5
p.G125E
c.374G>A
1 paper
NM_014417.5
p.Q132R
c.395A>G
1 paper
NM_014417.5
p.W133*
c.399G>A
1 paper
NM_001127240.3
p.S153A
c.457T>G
1 paper
NM_014417.5
p.G117A
c.350G>C
1 paper
NM_014417.5
p.R142W
c.424C>T
1 paper
NM_014417.5
p.A145E
c.434C>A
1 paper
NM_014417.5
p.L104Q
c.311T>A
1 paper
NM_014417.5
p.Y152*
c.456C>G
1 paper
NM_014417.5
p.Y152*
c.456C>A
1 paper
NM_014417.5
p.R89delFs
c.265delG
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."