Varaico: Literature-Extracted Genetic Variants

Gene:GRM6
Variant:p.C522Y
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GRM6

NM_000843.4:p.C522Y

Associated Papers

Genomic alterations in normal breast tissues preceding breast cancer diagnosis.

Dai J et al.

Breast Cancer Research : Bcr, 2025

40264151 (PubMed )
Supplement: 13058_2025_2018_MOESM1_ESM.xlsx › Table_S2

Defective glycosylation and ELFN1 binding of mGluR6 congenital stationary night blindness mutants.

Pindwarawala M et al.

Life Science Alliance, 2025

Germline predisposition in multiple myeloma.

Martins Rodrigues F et al.

Iscience, 2025

39845416 (PubMed )
Supplement: mmc3.xlsx › ST2G.Vars_in_all_genes_Family

The mGluR6 ligand-binding domain, but not the C-terminal domain, is required for synaptic localization in retinal ON-bipolar cells.

Agosto MA et al.

The Journal of Biological Chemistry, 2021

34793838 (PubMed )
Supplement: mmc1.pdf

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM23_ESM.xlsx › Supplementary_Data_20

Pseudodominant inheritance of autosomal recessive congenital stationary night blindness in one family with three co-segregating deleterious GRM6 variants identified by next-generation sequencing.

Liu HY et al.

Molecular Genetics & Genomic Medicine, 2019

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease

A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene.

Sergouniotis PI et al.

Acta Ophthalmologica, 2012

Altered G-protein coupling in an mGluR6 point mutant associated with congenital stationary night blindness.

Beqollari D et al.

Molecular Pharmacology, 2009

Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.

Zeitz C et al.

Investigative Ophthalmology & Visual Science, 2005

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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."