Varaico: Literature-Extracted Genetic Variants

Gene:UBE2S
Variant:p.K198R

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.K198R
c.593A>G
Surrounding Variants
2 papers
NM_014501.3
p.K197R
c.590A>G
1 paper
NM_014501.3
p.H199H
c.597T>C
1 paper
NM_014501.3
p.A196_K197ins15
c.586_590ins45
1 paper
NM_014501.3
p.G201D
c.602G>A
1 paper
NM_014501.3
p.E202_R203insT
c.604_608ins3
1 paper
NM_014501.3
p.P194R
c.581C>G
1 paper
NM_014501.3
p.G190E
c.569G>A
1 paper
NM_014501.3
p.A209_K210insG
c.625_629ins3
1 paper
NM_014501.3
p.K211N
c.633A>T
1 paper
NM_014501.3
p.K211N
c.633A>C
1 paper
NM_014501.3
p.G183G
c.549G>A
1 paper
NM_014501.3
p.P182L
c.545C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."