Varaico: Literature-Extracted Genetic Variants

Gene:UBE3B
Variant:p.W389*

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
6 papers
NM_130466.4
p.W389*
c.1166G>A
Surrounding Variants
4 papers
NM_130466.4
p.W389*
c.1167G>A
1 paper
NM_130466.4
p.R395W
c.1183C>T
1 paper
NM_130466.4
p.P412Q
c.1235C>A
1 paper
NM_130466.4
p.G373Splc
c.1119-40G>T
1 paper
NM_130466.4
p.S428Splc
c.1282+1G>A
1 paper
NM_130466.4
p.Y372C
c.1115A>G
1 paper
NM_130466.4
p.R432C
c.1294C>T
1 paper
NM_130466.4
p.W359*
c.1077G>A
1 paper
NM_130466.4
p.W359*
c.1076G>A
1 paper
NM_130466.4
p.V349delFs
c.1047delG
7 papers
NM_130466.4
p.R346Q
c.1037G>A
3 papers
NM_130466.4
p.R346R
c.1036C>A
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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."