Varaico: Literature-Extracted Genetic Variants

Gene:SUMO3
Variant:p.R55G

SUMO3

81 papers

RefSeq Summary

This gene encodes a member of the small ubiquitin-related modifier (SUMO) family of eukaryotic proteins. The encoded protein is covalently conjugated to other proteins via a post-translation modificat...

Pfam Domains

Rad60-SLDaa 17–87UCSCUbiquitin-2 like Rad60 SUMO-like
Rad60-SLDaa 17–87UCSCUbiquitin-2 like Rad60 SUMO-like

Gene Aliases

HGNC Name

small ubiquitin like modifier 3

HGNC Previous Symbol

SMT3H1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006936.3
p.R55G
c.163A>G
Surrounding Variants
1 paper
NM_006936.3
p.D70H
c.208G>C
1 paper
NM_006936.3
p.P72P
c.216A>T
1 paper
NM_006936.3
p.Q74_L75Splc
c.222+2T>C
1 paper
NM_006936.3
p.D84H
c.250G>C
2 papers
NM_006936.3
p.Q89P
c.266A>C
1 paper
NM_006936.3
p.G92A
c.275G>C
1 paper
NM_006936.3
p.L98L
c.294G>A
1 paper
NM_001286416.2
p.V69F
c.205G>T
1 paper
NM_001286416.2
p.L60V
c.178C>G
1 paper
NM_001286416.2
p.S59G
c.175A>G
1 paper
NM_006936.3
p.Q50_G51Splc
c.150+23A>G
1 paper
NM_006936.3
p.C47S
c.140G>C
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