Varaico: Literature-Extracted Genetic Variants

Gene:GRM1
Variant:p.Y262C
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GRM1

NM_001278064.2:p.Y262C

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

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

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

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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."