Varaico: Literature-Extracted Genetic Variants

Gene:UBA3
Variant:p.L63V

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
Selected Variant
1 paper
NM_003968.4
p.L63V
c.187C>G
Surrounding Variants
1 paper
NM_003968.4
p.A77S
c.229G>T
1 paper
NM_003968.4
p.K86R
c.257A>G
1 paper
NM_003968.4
p.P58T
c.172C>A
6 papers
NM_003968.4
p.E57D
c.171A>T
1 paper
NM_003968.4
p.P50R
c.149C>G
1 paper
NM_003968.4
p.G32R
c.94G>C
1 paper
NM_003968.4
p.G29G
c.87G>T
1 paper
NM_003968.4
p.D25Y
c.73G>T
1 paper
NM_003968.4
p.N110D
c.328A>G
1 paper
NM_003968.4
p.E15insFs
c.45dupG
1 paper
NM_003968.4
p.E8V
c.23A>T
1 paper
NM_003968.4
p.A2_G4del3
c.4_11del9
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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."