Varaico: Literature-Extracted Genetic Variants

Gene:UBE3B
Variant:p.E273_R274Splc

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.E273_R274Splc
c.819+1G>T
Surrounding Variants
2 papers
NM_130466.4
p.V240A
c.719T>C
1 paper
NM_130466.4
p.R274S
c.820C>A
1 paper
NM_130466.4
p.R274H
c.821G>A
1 paper
NM_130466.4
p.L275V
c.823C>G
2 papers
NM_130466.4
p.S280P
c.838T>C
1 paper
NM_130466.4
p.D282del1
c.844_845delGAC
1 paper
NM_130466.4
p.I289M
c.867A>G
1 paper
NM_130466.4
p.R296*
c.886C>T
1 paper
NM_130466.4
p.G314Splc
c.941-1G>A
1 paper
NM_130466.4
p.L322I
c.964C>A
1 paper
NM_130466.4
p.G333V
c.998G>T
1 paper
NM_130466.4
p.R346_S354del9
c.1036_1061del27
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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."