Varaico: Literature-Extracted Genetic Variants

Gene:UBE2Q1
Variant:p.P418A

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.P418A
c.1252C>G
Surrounding Variants
1 paper
NM_017582.7
p.P417A
c.1249C>G
1 paper
NM_017582.7
p.Y415D
c.1243T>G
1 paper
NM_017582.7
p.D421A
c.1262A>C
1 paper
NM_017582.7
p.N412fs
c.1234_1235fs
1 paper
NM_017582.7
p.N412delFs
c.1235delT
1 paper
NM_017582.7
p.H409N
c.1225C>A
1 paper
NM_017582.7
p.E367A
c.1100A>C
1 paper
NM_017582.7
p.Y364F
c.1091A>T
1 paper
NM_017582.7
p.C351C
c.1053C>T
1 paper
NM_017582.7
p.G347E
c.1040G>A
1 paper
NM_017582.7
p.Y343F
c.1028A>T
1 paper
NM_017582.7
p.K270E
c.808A>G
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."