Varaico: Literature-Extracted Genetic Variants

Gene:UBE2S
Variant:p.C95S

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
5 papers
NM_014501.3
p.C95S
c.283T>A
Surrounding Variants
5 papers
NM_014501.3
p.C95S
c.284G>C
1 paper
NM_014501.3
p.I94L
c.280A>C
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.A90A
c.270C>T
1 paper
NM_014501.3
p.K100R
c.299A>G
1 paper
NM_014501.3
p.K100N
c.300G>T
1 paper
NM_014501.3
p.W103C
c.309G>T
1 paper
NM_014501.3
p.P86L
c.257C>T
1 paper
NM_014501.3
p.T104A
c.310A>G
1 paper
NM_014501.3
p.T104T
c.312G>A
1 paper
NM_014501.3
p.H85Y
c.253C>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."