rs121434394

This is a variant in the TRPC6 gene that changes a arginine to an cysteine.

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ClinVar annotation

Pathogenic★☆☆☆
7 submitters16 publications

Focal segmental glomerulosclerosis 2 (FSGS2); Nephrotic syndrome; TRPC6-related disorder

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About TRPC6

The protein encoded by this gene forms a receptor-activated calcium channel in the cell membrane. The channel is activated by diacylglycerol and is thought to be under the control of a phosphatidylinositol second messenger system. Activation of this channel occurs independently of protein kinase C and is not triggered by low levels of intracellular calcium. Defects in this gene are a cause of focal segmental glomerulosclerosis 2 (FSGS2). [provided by RefSeq, Mar 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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