Home > Gene Browser > PKD1L2

PKD1L2

Synonyms
PC1L2
External resources
Summary
This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, and the reference genome encodes a non-functional allele. 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
62,151
Likely benign
11,720
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on PKD1L2 gene.

Phenotype class
Patients in 3billion (%)

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