Varaico: Literature-Extracted Genetic Variants

Gene:UBA3
Variant:p.M1insFs

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.M1insFs
c.1dupA
Surrounding Variants
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
1 paper
NM_003968.4
p.A2insFs
c.4dupG
1 paper
NM_003968.4
p.M1_A2ins0
c.2_4dupTGG
1 paper
NM_003968.4
p.M1_A2del1
c.2_4delCCA
1 paper
NM_003968.4
p.A2A
c.6G>T
1 paper
NM_003968.4
p.A2insFs
c.5dupC
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