Varaico: Literature-Extracted Genetic Variants

Gene:ARF1
Variant:p.Y35H
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ARF1

NM_001658.4:p.Y35H

Associated Papers

Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.

Gagoski D et al.

Protein Science : a Publication of the Protein Society, 2025

41088778 (PubMed )
Supplement: PRO-34-e70317-s008.xlsx › _S6_-_PTMVar_-_Grb2

ARF1-Related Diseases in China: The Initial Study of Phenotype and Molecular Profile.

Lian R et al.

Journal of Cellular and Molecular Medicine, 2025

Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.

Gagoski D et al.

Biorxiv : the Preprint Server for Biology, 2025

39764007 (PubMed )
Supplement: media-1.xlsx › _S6_-_PTMVar_-_Grb2

Variations associated with neurodevelopmental disorders affect ARF1 function and cortical development.

Ishiguro T et al.

Journal of Biochemistry, 2024

ARF1-related disorder: phenotypic and molecular spectrum.

de Sainte Agathe JM et al.

Journal of Medical Genetics, 2023

A neurodevelopmental disorder associated with an activating de novo missense variant in ARF1.

Ishida M et al.

Human Molecular Genetics, 2023

De novo ARF3 variants cause neurodevelopmental disorder with brain abnormality.

Sakamoto M et al.

Human Molecular Genetics, 2021

Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation.

Ge X et al.

Npj Genomic Medicine, 2016

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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."