Varaico: Literature-Extracted Genetic Variants

Gene:EPHA1
Variant:p.R24H
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EPHA1

NM_005232.5:p.R24H

Associated Papers

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S6

A Novel Rare PSEN2 Val226Ala in PSEN2 in a Korean Patient with Atypical Alzheimer's Disease, and the Importance of PSEN2 5th Transmembrane Domain (TM5) in AD Pathogenesis.

Yang Y et al.

International Journal of Molecular Sciences, 2024

39273625 (PubMed )
Supplement: ijms-25-09678-s001.zip › ijms-3093212-supplementary.pdf

PSEN1 His214Asn Mutation in a Korean Patient with Familial EOAD and the Importance of Histidine-Tryptophan Interactions in TM-4 Stability.

Bagyinszky E et al.

International Journal of Molecular Sciences, 2023

38203287 (PubMed )
Supplement: ijms-25-00116-s001.zip › ijms-2769595-supplementary.pdf
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