Varaico: Literature-Extracted Genetic Variants

Gene:OPHN1
Variant:p.M461V
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OPHN1

NM_002547.3:p.M461V

Associated Papers

C1-linker region of PARG1 RhoGAP promotes the catalytic recognition fold of RhoA substrate.

Kouchi Z et al.

Plos One, 2025

40632829 (PubMed )
Supplement: pone.0326924.s015.pdf

Effect of the OPHN1 novel variant c.1025+1 G>A on RNA splicing: insights from a minigene assay.

Yang F et al.

Bmc Medical Genomics, 2024

38956616 (PubMed )
Supplement: 12920_2024_1952_MOESM1_ESM.xlsx › Sheet1

Exome sequencing of sporadic childhood-onset schizophrenia suggests the contribution of X-linked genes in males.

Ambalavanan A et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2019

Autism spectrum disorder causes, mechanisms, and treatments: focus on neuronal synapses.

Won H et al.

Frontiers in Molecular Neuroscience, 2013

Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.

Piton A et al.

Molecular Psychiatry, 2011

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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."