Varaico: Literature-Extracted Genetic Variants

Gene:TRPC6
Variant:p.Q134P
Back to variants list

TRPC6

NM_004621.6:p.Q134P

Associated Papers

Podocyte-specific Translational Profiling In Vivo Uncovers Distinct Patterns in Trpc6-Deficient Podocytes.

Einloft J et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2026

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_S5

An inactivating human TRPC6 channel mutation without focal segmental glomerulosclerosis.

Batool L et al.

Cellular and Molecular Life Sciences : Cmls, 2023

Double synonymous mutations in exon 9 of the Cullin3 gene restore exon inclusion by abolishing hnRNPs inhibition.

Liu Z et al.

Human Molecular Genetics, 2022

Novel gain-of-function mutation of TRPC6 Q134P contributes to late onset focal segmental glomerulosclerosis in a Chinese pedigree.

Liu Z et al.

Nephrology (carlton, Vic.), 2021

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."