Varaico: Literature-Extracted Genetic Variants

Gene:UBE2K
Variant:p.P82delFs

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.P82delFs
c.245delC
Surrounding Variants
1 paper
NM_005339.5
p.H81_P82insFs
c.243_244insA
1 paper
NM_005339.5
p.P82del1
c.244_245delCCT
1 paper
NM_005339.5
p.P82L
c.245C>T
1 paper
NM_005339.5
p.K78I
c.233A>T
1 paper
NM_005339.5
p.S85R
c.255T>A
1 paper
NM_005339.5
p.T88A
c.262A>G
1 paper
NM_005339.5
p.T88R
c.263C>G
1 paper
NM_005339.5
p.V73A
c.218T>C
1 paper
NM_005339.5
p.V73I
c.217G>A
1 paper
NM_005339.5
p.K72_V73Splc
c.217-1G>A
2 papers
NM_005339.5
p.L93M
c.277T>A
1 paper
NM_005339.5
p.D94A
c.281A>C
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."