Varaico: Literature-Extracted Genetic Variants

Gene:GRIK1
Variant:p.F902S
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GRIK1

NM_001330994.2:p.F902S

Associated Papers

Kainate receptor subunit 1 (GRIK1) risk variants and GRIK1 deficiency were detected in the Indian ADHD probands.

Chatterjee M et al.

Scientific Reports, 2022

Ultrarare Loss-of-Function Mutations in the Genes Encoding the Ionotropic Glutamate Receptors of Kainate Subtypes Associated with Schizophrenia Disrupt the Interaction with PSD95.

Hu TM et al.

Journal of Personalized Medicine, 2022

35629206 (PubMed )
Supplement: jpm-12-00783-s001.zip › Supplementary_Figures_1.pdf

Damaging coding variants within kainate receptor channel genes are enriched in individuals with schizophrenia, autism and intellectual disabilities.

Koromina M et al.

Scientific Reports, 2019

Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.

Karageorgos I et al.

Human Genomics, 2015

26092435 (PubMed )
Supplement: 40246_2015_34_MOESM1_ESM.xlsx › FamilyA

Sequencing of the GRIK1 gene in patients with juvenile absence epilepsy does not reveal mutations affecting receptor structure.

Izzi C et al.

American Journal of Medical Genetics, 2002

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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."