Varaico: Literature-Extracted Genetic Variants

Gene:UBE2S
Variant:p.N130N

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.N130N
c.390C>T
Surrounding Variants
1 paper
NM_014501.3
p.A128V
c.383C>T
1 paper
NM_014501.3
p.G134V
c.401G>T
1 paper
NM_014501.3
p.E126D
c.378G>T
1 paper
NM_014501.3
p.E126D
c.378G>C
1 paper
NM_014501.3
p.L136Q
c.407T>A
1 paper
NM_014501.3
p.P123H
c.368C>A
1 paper
NM_014501.3
p.L138*
c.413T>A
1 paper
NM_014501.3
p.H122D
c.364C>G
2 papers
NM_014501.3
p.N140insFs
c.418_419insG
1 paper
NM_014501.3
p.Y141N
c.421T>A
1 paper
NM_014501.3
p.L119R
c.356T>G
1 paper
NM_014501.3
p.L119L
c.355C>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."