Varaico: Literature-Extracted Genetic Variants

Gene:UBE2Q1
Variant:p.E193del1

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.E193del1
c.577_578delCTC
Surrounding Variants
1 paper
NM_017582.7
p.D191H
c.571G>C
1 paper
NM_017582.7
p.E196_D197Splc
c.588+140T>C
1 paper
NM_017582.7
p.K139delFs
c.416delT
1 paper
NM_017582.7
p.K139fs
c.415_416fs
1 paper
NM_017582.7
p.V136G
c.407T>G
1 paper
NM_017582.7
p.M206I
c.618G>T
1 paper
NM_017582.7
p.M206I
c.618G>C
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
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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."