Varaico: Literature-Extracted Genetic Variants

Gene:TRPC3
Variant:p.R762H
Back to variants list

TRPC3

NM_001130698.2:p.R762H

Associated Papers

A case report of spinocerebellar ataxia with TRPC3 gene mutation and review of literature.

Liu Y et al.

Journal of Human Genetics, 2026

Physiological functions and pharmacological targeting of transient receptor potential channels.

Chubanov V et al.

Pharmacological Reviews, 2025

A role for TRPC3 in mammalian testis development.

Ming Z et al.

Frontiers in Cell and Developmental Biology, 2024

Modulation and Regulation of Canonical Transient Receptor Potential 3 (TRPC3) Channels.

Cole BA et al.

Cells, 2023

FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determination.

Croft B et al.

Clinical Genetics, 2023

36349847 (PubMed )
Supplement: CGE-103-277-s003.xlsx › Sheet1

The Emerging Key Role of the mGluR1-PKCγ Signaling Pathway in the Pathogenesis of Spinocerebellar Ataxias: A Neurodevelopmental Viewpoint.

Wu QW et al.

International Journal of Molecular Sciences, 2022

ConVarT: a search engine for matching human genetic variants with variants from non-human species.

Pir MS et al.

Nucleic Acids Research, 2022

34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S14.xls › human_pat_mouse_unk_orthovar_14

Spinocerebellar ataxia: an update.

Sullivan R et al.

Journal of Neurology, 2019

Ion channel dysfunction in cerebellar ataxia.

Bushart DD et al.

Neuroscience Letters, 2019

From Mice to Men: TRPC3 in Cerebellar Ataxia.

Becker EBE

Cerebellum (london, England), 2017

Do mutations in the murine ataxia gene TRPC3 cause cerebellar ataxia in humans?

Fogel BL et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2015

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."