Varaico: Literature-Extracted Genetic Variants

Gene:UBE2I

UBE2I

348 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

UQ_conaa 8–152UCSCUbiquitin-conjugating enzyme

Gene Aliases

HGNC Name

ubiquitin conjugating enzyme E2 I

HGNC Alias Symbol

UBC9

Papers
RefSeq ID
Protein change
DNA change
1–12 of 172 variants
18 papers
NM_003345.5
p.C93S
c.277T>A
17 papers
NM_003345.5
p.C93S
c.278G>C
5 papers
NM_003345.5
p.V25M
c.73G>A
4 papers
NM_003345.5
p.G23D
c.68G>A
3 papers
NM_003345.5
p.P69S
c.205C>T
3 papers
NM_003345.5
p.T91A
c.271A>G
3 papers
NM_003345.5
p.D100A
c.299A>C
3 papers
NM_003345.5
p.D127A
c.380A>C
2 papers
NM_003345.5
p.M1V
c.1A>G
2 papers
NM_003345.5
p.M1insFs
c.3dupG
2 papers
NM_003345.5
p.R8R
c.24A>G
2 papers
NM_003345.5
p.K14R
c.41A>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."