Varaico: Literature-Extracted Genetic Variants

Gene:UBE2S
Variant:p.K82R

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
Selected Variant
1 paper
NM_014501.3
p.K82R
c.245A>G
Surrounding Variants
1 paper
NM_014501.3
p.T81_K82insFs
c.243_244insA
1 paper
NM_014501.3
p.L80V
c.238C>G
1 paper
NM_014501.3
p.H85Y
c.253C>T
1 paper
NM_014501.3
p.P86L
c.257C>T
1 paper
NM_014501.3
p.G77C
c.229G>T
1 paper
NM_014501.3
p.P75H
c.224C>A
1 paper
NM_014501.3
p.A90A
c.270C>T
1 paper
NM_014501.3
p.G92G
c.276C>T
1 paper
NM_014501.3
p.G92G
c.276C>A
1 paper
NM_014501.3
p.P71S
c.211C>T
1 paper
NM_014501.3
p.I94L
c.280A>C
1 paper
NM_014501.3
p.F70insFs
c.209_210insG
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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."