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MOK

Synonyms
RAGE, RAGE-1, RAGE1, STK30
External resources
Summary
This gene belongs to the MAP kinase superfamily. The gene was found to be regulated by caudal type transcription factor 2 (Cdx2) protein. The encoded protein, which is localized to epithelial cells in the intestinal crypt, may play a role in growth arrest and differentiation of cells of upper crypt and lower villus regions. Multiple alternatively spliced transcript variants encoding different 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
2,559
Likely benign
1,936
Benign
0

Patient phenotypes

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

Phenotype class
Patients in 3billion (%)

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