Varaico: Literature-Extracted Genetic Variants

Gene:UBE2Q1
Variant:p.M206I

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
Selected Variant
1 paper
NM_017582.7
p.M206I
c.618G>C
Surrounding Variants
1 paper
NM_017582.7
p.M206I
c.618G>T
1 paper
NM_017582.7
p.M206I
c.618G>A
1 paper
NM_017582.7
p.K207insFs
c.619_620ins4
1 paper
NM_017582.7
p.E208K
c.622G>A
1 paper
NM_017582.7
p.E209*
c.625G>T
1 paper
NM_017582.7
p.D240H
c.718G>C
1 paper
NM_017582.7
p.N243H
c.727A>C
1 paper
NM_017582.7
p.R255Q
c.764G>A
1 paper
NM_017582.7
p.K270E
c.808A>G
1 paper
NM_017582.7
p.Y343F
c.1028A>T
1 paper
NM_017582.7
p.G347E
c.1040G>A
1 paper
NM_017582.7
p.C351C
c.1053C>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."