rs878853186
This is a synonymous variant in the TRPC6 gene — it does not change the protein's amino acid sequence.
▶ClinVar annotation
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]
View all TRPC6 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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