Varaico: Literature-Extracted Genetic Variants

Gene:UBE2L3

UBE2L3

242 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 6–144UCSCUbiquitin-conjugating enzyme

Gene Aliases

HGNC Name

ubiquitin conjugating enzyme E2 L3

HGNC Alias Symbol

UBCH7

Papers
RefSeq ID
Protein change
DNA change
1–12 of 52 variants
7 papers
NM_003347.4
p.C17S
c.49T>A
7 papers
NM_003347.4
p.C17S
c.50G>C
7 papers
NM_003347.4
p.C137S
c.409T>A
7 papers
NM_003347.4
p.C137S
c.410G>C
6 papers
NM_003347.4
p.C86S
c.256T>A
6 papers
NM_003347.4
p.C86S
c.257G>C
5 papers
NM_003347.4
p.K48R
c.143A>G
4 papers
NM_003347.4
p.K96E
c.286A>G
3 papers
NM_003347.4
p.K9E
c.25A>G
3 papers
NM_003347.4
p.L33W
c.98T>G
2 papers
NM_003347.4
p.K16*
c.46A>T
2 papers
NM_003347.4
p.K64E
c.190A>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."