Varaico: Literature-Extracted Genetic Variants

Gene:TRPC6
Variant:p.R175Q
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TRPC6

NM_004621.6:p.R175Q

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

Generation of an induced pluripotent stem cell line (NCKDi006-A) from a 34-year-old patient with focal segmental glomerulosclerosis carrying a heterozygous mutation in the TRPC6 gene.

Wang Y et al.

Stem Cell Research, 2025

The calcium channel TRPC6 promotes chemotherapy-induced persistence by regulating integrin α6 mRNA splicing.

Mukhopadhyay D et al.

Cell Reports, 2023

An inactivating human TRPC6 channel mutation without focal segmental glomerulosclerosis.

Batool L et al.

Cellular and Molecular Life Sciences : Cmls, 2023

Transient receptor potential canonical type 6 (TRPC6) O-GlcNAcylation at Threonine-221 plays potent role in channel regulation.

Mishra S et al.

Iscience, 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

Sequence and Structure-Based Analyses of Human Ankyrin Repeats.

Chakrabarty B et al.

Molecules (basel, Switzerland), 2022

35056738 (PubMed )
Supplement: molecules-27-00423-s001.zip › SupplementaryFileS4.xlsx › Sheet1

Heterozygous missense variant in TRPC6 in a boy with rapidly progressive infantile nephrotic syndrome associated with diffuse mesangial sclerosis.

Hanafusa H et al.

American Journal of Medical Genetics. Part A, 2021

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

In vivo selective inhibition of TRPC6 by antagonist BI 749327 ameliorates fibrosis and dysfunction in cardiac and renal disease.

Lin BL et al.

Proceedings of the National Academy of Sciences of the United States of America, 2019

Pharmacological inhibition of focal segmental glomerulosclerosis-related, gain of function mutants of TRPC6 channels by semi-synthetic derivatives of larixol.

Urban N et al.

British Journal of Pharmacology, 2017

Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.

Bierzynska A et al.

Kidney International, 2017

TRPC6 G757D Loss-of-Function Mutation Associates with FSGS.

Riehle M et al.

Journal of the American Society of Nephrology : Jasn, 2016

New TRPC6 gain-of-function mutation in a non-consanguineous Dutch family with late-onset focal segmental glomerulosclerosis.

Hofstra JM et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2013

Screening of ACTN4 and TRPC6 mutations in a Chinese cohort of patients with adult-onset familial focal segmental glomerulosclerosis.

Zhang Q et al.

Contributions to Nephrology, 2013

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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."