Varaico: Literature-Extracted Genetic Variants

Gene:UBA3
Variant:p.Y352H

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
3 papers
NM_003968.4
p.Y352H
c.1054T>C
Surrounding Variants
1 paper
NM_003968.4
p.G350R
c.1048G>C
1 paper
NM_003968.4
p.G350R
c.1048G>A
1 paper
NM_003968.4
p.A335T
c.1003G>A
1 paper
NM_003968.4
p.F329L
c.987T>G
1 paper
NM_003968.4
p.F329L
c.987T>A
1 paper
NM_003968.4
p.F329V
c.985T>G
1 paper
NM_003968.4
p.F329L
c.985T>C
1 paper
NM_003968.4
p.C324Y
c.971G>A
1 paper
NM_003968.4
p.S368N
c.1103G>A
1 paper
NM_198195.2
p.S363F
c.1088C>T
1 paper
NM_003968.4
p.A380G
c.1139C>G
1 paper
NM_003968.4
p.A318S
c.952G>T
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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."