Varaico: Literature-Extracted Genetic Variants

Gene:UBE2K

UBE2K

350 papers

RefSeq Summary

The protein encoded by this gene belongs to the ubiquitin-conjugating enzyme family. This protein interacts with RING finger proteins, and it can ubiquitinate huntingtin, the gene product for Huntingt...

Pfam Domains

UQ_conaa 8–149UCSCUbiquitin-conjugating enzyme
UBAaa 161–197UCSCUBA/TS-N domain

Gene Aliases

HGNC Name

ubiquitin conjugating enzyme E2 K

HGNC Previous Symbol

HIP2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 100 variants
3 papers
NM_005339.5
p.I60L
c.178A>T
3 papers
NM_005339.5
p.A178T
c.532G>A
2 papers
NM_005339.5
p.K18M
c.53A>T
2 papers
NM_005339.5
p.L93M
c.277T>A
2 papers
NM_005339.5
p.K97R
c.290A>G
2 papers
NM_005339.5
p.M140insFs
c.418_419insG
2 papers
NM_005339.5
p.C170S
c.508T>A
2 papers
NM_005339.5
p.C170S
c.509G>C
1 paper
NM_005339.5
p.M1K
c.2T>A
1 paper
NM_005339.5
p.M1T
c.2T>C
1 paper
NM_005339.5
p.M1I
c.3G>C
1 paper
NM_005339.5
p.I4V
c.10A>G
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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."