rs141868275
This variant is located in the PKD2L1 gene.
▶ClinVar annotation
Benign★★★☆
2 submitters2 publicationsAbout 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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