Varaico: Literature-Extracted Genetic Variants

Gene:UBE2S
Variant:p.T180S

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.T180S
c.539C>G
Surrounding Variants
1 paper
NM_014501.3
p.P182L
c.545C>T
1 paper
NM_014501.3
p.G183G
c.549G>A
1 paper
NM_014501.3
p.T175I
c.524C>T
1 paper
NM_014501.3
p.A172D
c.515C>A
1 paper
NM_014501.3
p.G190E
c.569G>A
1 paper
NM_014501.3
p.G168delFs
c.503delC
1 paper
NM_014501.3
p.P194R
c.581C>G
1 paper
NM_014501.3
p.A196_K197ins15
c.586_590ins45
2 papers
NM_014501.3
p.K197R
c.590A>G
1 paper
NM_014501.3
p.S162R
c.486C>G
2 papers
NM_014501.3
p.K198R
c.593A>G
1 paper
NM_014501.3
p.H199H
c.597T>C
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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."