Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK2
Variant:p.S97F
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EIF2AK2

NM_001135651.3:p.S97F

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_-_Lyn

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_-_Lyn

A Recurrent EIF2AK2 Missense Variant Causes Autosomal-Dominant Isolated Dystonia.

Musacchio T et al.

Annals of Neurology, 2021

EIF2AK2-related Neurodevelopmental Disorder With Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Mimics Pelizaeus-Merzbacher Disease.

Calame DG et al.

Neurology. Genetics, 2021

A Recurrent De Novo Variant in EIF2AK2 Causes a Hypomyelinating Leukodystrophy.

Macintosh J et al.

Child Neurology Open, 0

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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."