Varaico: Literature-Extracted Genetic Variants

Gene:UBE2E1

UBE2E1

45 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 51–188UCSCUbiquitin-conjugating enzyme

Gene Aliases

HGNC Name

ubiquitin conjugating enzyme E2 E1

HGNC Alias Symbol

UbcH6

Papers
RefSeq ID
Protein change
DNA change
1–12 of 25 variants
4 papers
NM_003341.5
p.E25D
c.75A>T
3 papers
NM_003341.5
p.E25D
c.75A>C
2 papers
NM_003341.5
p.C131S
c.391T>A
2 papers
NM_003341.5
p.C131S
c.392G>C
1 paper
NM_003341.5
p.M1I
c.3G>A
1 paper
NM_003341.5
p.S9I
c.26G>T
1 paper
NM_003341.5
p.T26I
c.77C>T
1 paper
NM_003341.5
p.P29S
c.85C>T
1 paper
NM_003341.5
p.K40*
c.118A>T
1 paper
NM_003341.5
p.D58E
c.174C>A
1 paper
NM_003341.5
p.D58E
c.174C>G
1 paper
NM_003341.5
p.P64L
c.191C>T
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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."