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VSNL1

Synonyms
HLP3, HPCAL3, HUVISL1, VILIP, VILIP-1
External resources
Summary
This gene is a member of the visinin/recoverin subfamily of neuronal calcium sensor proteins. The encoded protein is strongly expressed in granule cells of the cerebellum where it associates with membranes in a calcium-dependent manner and modulates intracellular signaling pathways of the central nervous system by directly or indirectly regulating the activity of adenylyl cyclase. Alternatively spliced transcript variants have been observed, but their full-length nature has not been determined.

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
4,521
Likely benign
108
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on VSNL1 gene.

Phenotype class
Patients in 3billion (%)

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