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ASAP3

Synonyms
ACAP4, CENTB6, DDEFL1, UPLC1
External resources
Summary
This gene encodes a member of a subfamily of ADP-ribosylation factor(Arf) GTPase-activating proteins that contain additional ankyrin repeat and pleckstrin homology domains. The Arf GAP domain of this protein catalyzes the hydrolysis of GTP bound to Arf proteins. The encoded protein promotes cell differentiation and migration and has been implicated in cancer cell invasion. Alternative splicing results in multiple transcript variants.

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
14,183
Likely benign
3,147
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on ASAP3 gene.

Phenotype class
Patients in 3billion (%)

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