Varaico: Literature-Extracted Genetic Variants

Gene:UBA3
Variant:p.D3insFs

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.D3insFs
c.9dupT
Surrounding Variants
1 paper
NM_003968.4
p.M1_D3del3
c.1_8del9
1 paper
NM_003968.4
p.M1_D3delFs
c.1_8del8
1 paper
NM_003968.4
p.A2_D3del1
c.5_7delCCG
1 paper
NM_003968.4
p.G4insFs
c.12dupC
1 paper
NM_003968.4
p.M1_G4insFs
c.2_12dup11
1 paper
NM_003968.4
p.M1_A2del2
c.1_5del6
1 paper
NM_003968.4
p.A2A
c.6G>T
1 paper
NM_003968.4
p.A2insFs
c.5dupC
1 paper
NM_003968.4
p.M1_A2insFs
c.1_5dup5
1 paper
NM_003968.4
p.A2_G4del3
c.4_11del9
1 paper
NM_003968.4
p.A2insFs
c.4dupG
1 paper
NM_003968.4
p.M1_A2ins0
c.2_4dupTGG
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