Varaico: Literature-Extracted Genetic Variants

Gene:UBE2S
Variant:p.K63N

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
2 papers
NM_014501.3
p.K63N
c.189A>C
Surrounding Variants
2 papers
NM_014501.3
p.K63N
c.189A>T
1 paper
NM_014501.3
p.L64F
c.190C>T
1 paper
NM_014501.3
p.L64V
c.190C>G
4 papers
NM_014501.3
p.K63R
c.188A>G
1 paper
NM_014501.3
p.L66ins5
c.196_197ins15
1 paper
NM_014501.3
p.R61C
c.181C>T
1 paper
NM_014501.3
p.G67W
c.199G>T
1 paper
NM_014501.3
p.F60V
c.178T>G
1 paper
NM_014501.3
p.K68insFs
c.202_203insT
1 paper
NM_014501.3
p.D69V
c.206A>T
2 papers
NM_014501.3
p.G57A
c.170G>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."