Varaico: Literature-Extracted Genetic Variants

Gene:UBE2S
Variant:p.P10R

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.P10R
c.29C>G
Surrounding Variants
1 paper
NM_014501.3
p.P9P
c.27C>A
1 paper
NM_014501.3
p.L8V
c.22C>G
1 paper
NM_014501.3
p.L8I
c.22C>A
1 paper
NM_014501.3
p.I13M
c.39C>G
1 paper
NM_014501.3
p.E6E
c.18G>A
1 paper
NM_014501.3
p.R14S
c.40C>A
1 paper
NM_014501.3
p.V5L
c.13G>C
1 paper
NM_014501.3
p.V16insFs
c.46_47insT
1 paper
NM_014501.3
p.K18E
c.52A>G
3 papers
NM_014501.3
p.K18M
c.53A>T
1 paper
NM_014501.3
p.K18R
c.53A>G
1 paper
NM_014501.3
p.E19E
c.57G>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."