Home > Gene Browser > VAX2

VAX2

Synonyms
DRES93
External resources
Summary
This gene encodes a homeobox protein and is almost exclusively expressed in the ventral portion of the retina during development. In mouse studies, this gene was found to be required for the correct formation of the optic fissure and other aspects of retinal development.

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
2,322
Likely benign
376
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on VAX2 gene.

Phenotype class
Patients in 3billion (%)

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