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SCYL3

Synonyms
PACE-1, PACE1
External resources
Summary
This gene encodes a protein with a kinase domain and four HEAT repeats. The encoded protein interacts with the C-terminal domain of ezrin, an ERM protein, and may play a role in cell adhesion and migration. Alternative splicing results in multiple transcript variants encoding multiple isoforms.

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
5,994
Likely benign
5,794
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on SCYL3 gene.

Phenotype class
Patients in 3billion (%)

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