Varaico: Literature-Extracted Genetic Variants

Gene:UBE2S

UBE2S

447 papers

RefSeq Summary

This gene encodes a member of the ubiquitin-conjugating enzyme family. The encoded protein is able to form a thiol ester linkage with ubiquitin in a ubiquitin activating enzyme-dependent manner, a cha...

Pfam Domains

UQ_conaa 15–152UCSCUbiquitin-conjugating enzyme

Gene Aliases

HGNC Name

ubiquitin conjugating enzyme E2 S

HGNC Alias Symbol

E2-EPF

Papers
RefSeq ID
Protein change
DNA change
1–12 of 116 variants
5 papers
NM_014501.3
p.C95S
c.283T>A
5 papers
NM_014501.3
p.C95S
c.284G>C
4 papers
NM_014501.3
p.K63R
c.188A>G
3 papers
NM_014501.3
p.K18M
c.53A>T
3 papers
NM_014501.3
p.V33G
c.98T>G
2 papers
NM_014501.3
p.D26N
c.76G>A
2 papers
NM_014501.3
p.G57A
c.170G>C
2 papers
NM_014501.3
p.K63N
c.189A>T
2 papers
NM_014501.3
p.K63N
c.189A>C
2 papers
NM_014501.3
p.N140insFs
c.418_419insG
2 papers
NM_014501.3
p.K197R
c.590A>G
2 papers
NM_014501.3
p.K198R
c.593A>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."