Home > Gene Browser > RPTOR

RPTOR

Synonyms
KOG1, Mip1
External resources
Summary
This gene encodes a component of a signaling pathway that regulates cell growth in response to nutrient and insulin levels. The encoded protein forms a stoichiometric complex with the mTOR kinase, and also associates with eukaryotic initiation factor 4E-binding protein-1 and ribosomal protein S6 kinase. The protein positively regulates the downstream effector ribosomal protein S6 kinase, and negatively regulates the mTOR kinase. Multiple transcript variants encoding different isoforms have been found 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
24,062
Likely benign
11,518
Benign
0

Patient phenotypes

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

Phenotype class
Patients in 3billion (%)

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