Varaico: Literature-Extracted Genetic Variants

Gene:UBE2Q1

UBE2Q1

34 papers

RefSeq Summary

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes...

Pfam Domains

UQ_conaa 310–409UCSCUbiquitin-conjugating enzyme

Gene Aliases

HGNC Name

ubiquitin conjugating enzyme E2 Q1

HGNC Alias Symbols

PRO3094; NICE-5

Papers
RefSeq ID
Protein change
DNA change
1–12 of 40 variants
2 papers
NM_017582.7
p.G32V
c.95G>T
1 paper
NM_017582.7
p.M1insFs
c.2_3insTC
1 paper
NM_017582.7
p.Q2ins2
c.4_5ins6
1 paper
NM_017582.7
p.G34C
c.100G>T
1 paper
NM_017582.7
p.S50Y
c.149C>A
1 paper
NM_017582.7
p.C65delFs
c.193delA
1 paper
NM_017582.7
p.E68K
c.202G>A
1 paper
NM_017582.7
p.E72K
c.214G>A
1 paper
NM_017582.7
p.A85fs
c.253_254fs
1 paper
NM_017582.7
p.A86S
c.256G>T
1 paper
NM_017582.7
p.P93S
c.277C>T
1 paper
NM_017582.7
p.G95E
c.284G>A
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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."