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SUMO3

Synonyms
SMT3A, SMT3H1, SUMO-3, Smt3B
External resources
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 modification known as sumoylation. Sumoylation may play a role in a wide variety of cellular processes, including nuclear transport, DNA replication and repair, mitosis, transcriptional regulation, and signal transduction. Alternatively spliced transcript variants encoding distinct proteins have been described.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
2,079
Likely benign
974
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on SUMO3 gene.

Phenotype class
Patients in 3billion (%)

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