Varaico: Literature-Extracted Genetic Variants

Gene:TRPC6
Variant:p.A85G
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TRPC6

NM_004621.6:p.A85G

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_S4

Mutational landscape of TRPC6, WT1, LMX1B, APOL1, PTPRO, PMM2, LAMB2 and WT1 genes associated with Steroid resistant nephrotic syndrome.

Thakor JM et al.

Molecular Biology Reports, 2021

TRPC6 and NPHS2 gene variants in adult patients with steroid-resistant nephrotic syndrome in North-West of Iran.

Zununi Vahed S et al.

Molecular Biology Reports, 2019

-254C>G SNP in the TRPC6 Gene Promoter Influences Its Expression via Interaction with the NF-κB Subunit RELA in Steroid-Resistant Nephrotic Syndrome Children.

Kuang X et al.

International Journal of Genomics, 2019

A systematic review of genetic mutations in pulmonary arterial hypertension.

Garcia-Rivas G et al.

Bmc Medical Genetics, 2017

28768485 (PubMed )
Supplement: 12881_2017_440_MOESM1_ESM.xlsx › table-mutations-per-gene

TRPC6 gene promoter polymorphisms in steroid resistant nephrotic syndrome children.

Mahesh Kumar KB et al.

Journal of Nephropharmacology, 2015

254C>G: a TRPC6 promoter variation associated with enhanced transcription and steroid-resistant nephrotic syndrome in Chinese children.

Kuang XY et al.

Pediatric Research, 2013

No association between the SNPs (rs56134796; rs3824934; rs41302375) in the TRPC6 gene promoter and infantile hypertrophic pyloric stenosis in Chinese people.

Ju JJ et al.

Pediatric Surgery International, 2011

A functional single-nucleotide polymorphism in the TRPC6 gene promoter associated with idiopathic pulmonary arterial hypertension.

Yu Y et al.

Circulation, 2009

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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."