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PKMYT1

Synonyms
MYT1, PPP1R126
External resources
Summary
This gene encodes a member of the serine/threonine protein kinase family. The encoded protein is a membrane-associated kinase that negatively regulates the G2/M transition of the cell cycle by phosphorylating and inactivating cyclin-dependent kinase 1. The activity of the encoded protein is regulated by polo-like kinase 1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

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
3,883
Likely benign
880
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on PKMYT1 gene.

Phenotype class
Patients in 3billion (%)

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