Varaico: Literature-Extracted Genetic Variants

Gene:UBE3B
Variant:p.R46W

UBE3B

126 papers

RefSeq Summary

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes...

Pfam Domains

HECTaa 736–1068UCSCHECT-domain (ubiquitin-transferase)

Gene Aliases

HGNC Name

ubiquitin protein ligase E3B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_130466.4
p.R46W
c.136C>T
Surrounding Variants
1 paper
NM_130466.4
p.R46Q
c.137G>A
1 paper
NM_130466.4
p.A32V
c.95C>T
2 papers
NM_130466.4
p.R31Q
c.92G>A
1 paper
NM_130466.4
p.K27M
c.80A>T
1 paper
NM_130466.4
p.K27*
c.79A>T
1 paper
NM_130466.4
p.R23G
c.67A>G
9 papers
NM_130466.4
p.E21*
c.61G>T
1 paper
NM_130466.4
p.M1V
c.1A>G
1 paper
NM_130466.4
p.D58_D59ins0
c.173_175dupATG
1 paper
NM_130466.4
p.K70R
c.209A>G
1 paper
NM_130466.4
p.L86delFs
c.256delC
1 paper
NM_130466.4
p.E94fs
c.280_281fs
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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."