KEGG   VARIANT: 7225v1
Entry
7225v1                      Variant                                
Name
TRPC6 gain-of-function mutation
Type
Gain of function
Gene
TRPC6  transient receptor potential cation channel subfamily C member 6 [KO:K04969]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603652
Network
nt06546  IgSF CAM signaling
Disease
H00626  Focal segmental glomerulosclerosis
Reference
PMID:15879175
  Authors
Winn MP, Conlon PJ, Lynn KL, Farrington MK, Creazzo T, Hawkins AF, Daskalakis N, Kwan SY, Ebersviller S, Burchette JL, Pericak-Vance MA, Howell DN, Vance JM, Rosenberg PB
  Title
A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis.
  Journal
Science 308:1801-4 (2005)
DOI:10.1126/science.1106215
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