Varaico: Literature-Extracted Genetic Variants

Gene:GRM1
Variant:p.Y792C
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GRM1

NM_001278064.2:p.Y792C

Associated Papers

Enhanced mGluR1 function causes motor deficits and region-specific Purkinje cell dysfunction.

Ibrahim MF et al.

Brain : a Journal of Neurology, 2026

Spinocerebellar Ataxia 44 Caused by a Novel GRM1 Variant: Reviewing the Contrasting Pathogenic Mechanisms Underlying Two GRM1-Associated Hereditary Ataxias.

Lan SC et al.

Cerebellum (london, England), 2025

SCA44- and SCAR13-associated GRM1 mutations affect metabotropic glutamate receptor 1 function through distinct mechanisms.

Wang Y et al.

British Journal of Pharmacology, 2024

Genetic Variant in GRM1 Underlies Congenital Cerebellar Ataxia with No Obvious Intellectual Disability.

Protasova MS et al.

International Journal of Molecular Sciences, 2023

36675067 (PubMed )
Supplement: ijms-24-01551-s001.zip › Supplemental_Table_S1.xlsx › Table_S1

Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance.

Ghorbani F et al.

Frontiers in Genetics, 2022

A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset.

Cabet S et al.

European Journal of Medical Genetics, 2019

Spinocerebellar ataxia: an update.

Sullivan R et al.

Journal of Neurology, 2019

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.

Watson LM et al.

American Journal of Human Genetics, 2017

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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."