Varaico: Literature-Extracted Genetic Variants

Gene:TRPC6
Variant:p.R68W
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TRPC6

NM_004621.6:p.R68W

Associated Papers

Genotype-phenotype correlations and clinical outcomes of genetic TRPC6 podocytopathies.

McAnallen SM et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2025

40388293 (PubMed )
Supplement: gfaf086_Supplemental_Files.zip › TRPC6_NDT_R2_01903-2024_Supplementary_Tables.xlsx › Table_S9

Delayed inactivation of TRPC6 as a determinative characteristic of FSGS-associated variants.

Okada R et al.

The Journal of Biological Chemistry, 2025

Genetic features and kidney morphological changes in women with X-linked Alport syndrome.

Di H et al.

Journal of Medical Genetics, 2023

An inactivating human TRPC6 channel mutation without focal segmental glomerulosclerosis.

Batool L et al.

Cellular and Molecular Life Sciences : Cmls, 2023

In silico analysis of TRPM4 variants of unknown clinical significance.

Tarnovskaya SI et al.

Plos One, 2023

38100498 (PubMed )
Supplement: pone.0295974.s001.xlsx › Table_S1_Broad_Dataset_ST

Post-Translational Modification and Natural Mutation of TRPC Channels.

Liu X et al.

Cells, 2020

Two Children With Novel TRPC6 Spontaneous Missense Mutations and Atypical Phenotype: A Case Report and Literature Review.

Wang M et al.

Frontiers in Pediatrics, 2020

Genetic Interactions Between TRPC6 and NPHS1 Variants Affect Posttransplant Risk of Recurrent Focal Segmental Glomerulosclerosis.

Sun ZJ et al.

American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."