rs2493305069

This variant is located in the PKD2L1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About PKD2L1

This gene encodes a member of the polycystin protein family. The encoded protein contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions. This protein functions as a calcium-regulated nonselective cation channel. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

View all PKD2L1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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