Varaico: Literature-Extracted Genetic Variants

Gene:UBE2K
Variant:p.V190A

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
Selected Variant
1 paper
NM_005339.5
p.V190A
c.569T>C
Surrounding Variants
1 paper
NM_005339.5
p.D189E
c.567T>A
1 paper
NM_005339.5
p.T194A
c.580A>G
1 paper
NM_005339.5
p.E195A
c.584A>C
1 paper
NM_005339.5
p.L196_L197ins15
c.586_590ins45
1 paper
NM_005339.5
p.L183L
c.549G>A
1 paper
NM_005339.5
p.L198R
c.593T>G
1 paper
NM_005339.5
p.S199S
c.597T>C
1 paper
NM_005339.5
p.V179V
c.537A>T
3 papers
NM_005339.5
p.A178T
c.532G>A
1 paper
NM_005339.5
p.N177I
c.530A>T
1 paper
NM_005339.5
p.R176_N177Splc
c.528+2T>G
2 papers
NM_005339.5
p.C170S
c.509G>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."