Varaico: Literature-Extracted Genetic Variants

Gene:TRPC6
Variant:p.N110H
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TRPC6

NM_004621.6:p.N110H

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

An inactivating human TRPC6 channel mutation without focal segmental glomerulosclerosis.

Batool L et al.

Cellular and Molecular Life Sciences : Cmls, 2023

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

Post-Translational Modification and Natural Mutation of TRPC Channels.

Liu X et al.

Cells, 2020

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

Riehle M et al.

Journal of the American Society of Nephrology : Jasn, 2016

Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis.

Barua M et al.

Kidney International, 2013

23014460 (PubMed )
Supplement: NIHMS403964-supplement-supplement_1.pdf
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