Varaico: Literature-Extracted Genetic Variants

Gene:UBA3
Variant:p.N209S

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.N209S
c.626A>G
Surrounding Variants
1 paper
NM_003968.4
p.N209K
c.627T>G
1 paper
NM_003968.4
p.N209K
c.627T>A
1 paper
NM_003968.4
p.N209D
c.625A>G
2 papers
NM_003968.4
p.E204K
c.610G>A
1 paper
NM_003968.4
p.G201V
c.602G>T
1 paper
NM_003968.4
p.G201W
c.601G>T
1 paper
NM_003968.4
p.Y228H
c.682T>C
1 paper
NM_003968.4
p.V189V
c.567C>A
1 paper
NM_003968.4
p.Q231H
c.693G>T
1 paper
NM_003968.4
p.I180M
c.540A>G
1 paper
NM_003968.4
p.A171D
c.512C>A
6 papers
NM_003968.4
p.A171T
c.511G>A
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."