Varaico: Literature-Extracted Genetic Variants

Gene:UBA3

UBA3

49 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

ThiFaa 54–366UCSCThiF family
E2_bindaa 375–461UCSCE2 binding domain

Gene Aliases

HGNC Name

ubiquitin like modifier activating enzyme 3

HGNC Previous Symbol

UBE1C

Papers
RefSeq ID
Protein change
DNA change
1–12 of 73 variants
6 papers
NM_003968.4
p.E57D
c.171A>T
6 papers
NM_003968.4
p.A171T
c.511G>A
3 papers
NM_003968.4
p.Y352H
c.1054T>C
2 papers
NM_003968.4
p.E204K
c.610G>A
1 paper
NM_003968.4
p.M1insFs
c.1dupA
1 paper
NM_003968.4
p.M1delFs
c.1delT
1 paper
NM_003968.4
p.M1insFs
c.2dupT
1 paper
NM_003968.4
p.M1insFs
c.1_2dupAT
1 paper
NM_003968.4
p.M1delFs
c.1_2delAT
1 paper
NM_003968.4
p.M1insFs
c.2_3dupTG
1 paper
NM_003968.4
p.M1ins0
c.1_3dupATG
1 paper
NM_003968.4
p.M1del1
c.1_2delCAT
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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."