Varaico: Literature-Extracted Genetic Variants

Gene:UBE2K
Variant:p.Y56C

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.Y56C
c.167A>G
Surrounding Variants
1 paper
NM_005339.5
p.G53Splc
c.158-1G>T
1 paper
NM_005339.5
p.I60fs
c.178_179fs
3 papers
NM_005339.5
p.I60L
c.178A>T
1 paper
NM_005339.5
p.I62delFs
c.186delA
1 paper
NM_005339.5
p.Y66ins5
c.196_197ins15
1 paper
NM_005339.5
p.P67L
c.200C>T
1 paper
NM_005339.5
p.F68insFs
c.202_203insT
1 paper
NM_005339.5
p.N69I
c.206A>T
1 paper
NM_005339.5
p.P70insFs
c.209_210insG
1 paper
NM_005339.5
p.P71insFs
c.211_212insAA
1 paper
NM_005339.5
p.P71S
c.211C>T
1 paper
NM_005339.5
p.K72R
c.215A>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."