Varaico: Literature-Extracted Genetic Variants

Gene:UBE2E1
Variant:p.C131S

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
Selected Variant
2 papers
NM_003341.5
p.C131S
c.391T>A
Surrounding Variants
2 papers
NM_003341.5
p.C131S
c.392G>C
1 paper
NM_003341.5
p.K136R
c.407A>G
1 paper
NM_003341.5
p.I119I
c.357C>A
1 paper
NM_003341.5
p.L150P
c.449T>C
1 paper
NM_003341.5
p.D163A
c.488A>C
1 paper
NM_003341.5
p.P164A
c.490C>G
1 paper
NM_003341.5
p.E105D
c.315A>C
1 paper
NM_003341.5
p.E105D
c.315A>T
1 paper
NM_003341.5
p.G70D
c.209G>A
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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."