Varaico: Literature-Extracted Genetic Variants

Gene:UBE3B
Variant:p.R221H

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.R221H
c.662G>A
Surrounding Variants
1 paper
NM_130466.4
p.R221C
c.661C>T
1 paper
NM_130466.4
p.P222S
c.664C>T
1 paper
NM_130466.4
p.L224_S234ins3
c.672_701dup30
2 papers
NM_130466.4
p.Q210_I211Splc
c.630+1G>T
1 paper
NM_130466.4
p.Y206C
c.617A>G
1 paper
NM_130466.4
p.L200L
c.600C>G
1 paper
NM_130466.4
p.I192delFs
c.576delT
1 paper
NM_130466.4
p.A188delFs
c.563_564delCG
1 paper
NM_130466.4
p.P187R
c.560C>G
1 paper
NM_130466.4
p.R186Q
c.557G>A
5 papers
NM_130466.4
p.R186*
c.556C>T
3 papers
NM_130466.4
p.G182Splc
c.545-2A>G
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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."