Varaico: Literature-Extracted Genetic Variants

Gene:ANK1
Variant:p.V463I
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ANK1

NM_000037.4:p.V463I

Associated Papers

Two Variants of the ANK1 Gene Associated with Hereditary Spherocytosis.

Bogusławska DM et al.

Biomedicines, 2025

Whole-genome sequencing identifies variants in ANK1, LRRN1, HAS1, and other genes and regulatory regions for stroke in type 1 diabetes.

Antikainen AA et al.

Scientific Reports, 2024

Sequence and Structure-Based Analyses of Human Ankyrin Repeats.

Chakrabarty B et al.

Molecules (basel, Switzerland), 2022

35056738 (PubMed )
Supplement: molecules-27-00423-s001.zip › SupplementaryFileS4.xlsx › Sheet1

The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Punta M et al.

Frontiers in Immunology, 2020

33133066 (PubMed )
Supplement: Table_1.xlsx › Germline_SNPs

Spectrum of Ankyrin Mutations in Hereditary Spherocytosis: A Case Report and Review of the Literature.

Luo Y et al.

Acta Haematologica, 2018

Mutation of conserved histidines alters tertiary structure and nanomechanics of consensus ankyrin repeats.

Lee W et al.

The Journal of Biological Chemistry, 2012

Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis.

Eber SW et al.

Nature Genetics, 1996

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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."