Varaico: Literature-Extracted Genetic Variants

Gene:UBE2K
Variant:p.C170S

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
2 papers
NM_005339.5
p.C170S
c.508T>A
Surrounding Variants
1 paper
NM_005339.5
p.C170R
c.508T>C
2 papers
NM_005339.5
p.C170S
c.509G>C
1 paper
NM_005339.5
p.E167A
c.500A>C
1 paper
NM_005339.5
p.E167*
c.499G>T
1 paper
NM_005339.5
p.K164N
c.492A>C
1 paper
NM_005339.5
p.K164N
c.492A>T
1 paper
NM_005339.5
p.K164E
c.490A>G
1 paper
NM_005339.5
p.Y162*
c.486C>G
1 paper
NM_005339.5
p.R176_N177Splc
c.528+2T>G
1 paper
NM_005339.5
p.S158F
c.473C>T
1 paper
NM_005339.5
p.V157I
c.469G>A
1 paper
NM_005339.5
p.V157F
c.469G>T
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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."