Varaico: Literature-Extracted Genetic Variants

Gene:ANK1
Variant:p.P114L
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ANK1

NM_000037.4:p.P114L

Associated Papers

Nanobodies restore stability to cancer-associated mutants of tumor suppressor protein p16INK4a.

Burbidge O et al.

Structure (london, England : 1993), 2025

Clinical manifestations of 17 Chinese children with hereditary spherocytosis caused by novel mutations of the ANK1 gene and phenotypic analysis.

Kang M et al.

Frontiers in Genetics, 2023

36816036 (PubMed )
Supplement: Table1.DOCX

Density, heterogeneity and deformability of red cells as markers of clinical severity in hereditary spherocytosis.

Huisjes R et al.

Haematologica, 2020

Genetic and Clinical Characteristics of Patients With Hereditary Spherocytosis in Hubei Province of China.

Wang X et al.

Frontiers in Genetics, 2020

The Complexity of Genotype-Phenotype Correlations in Hereditary Spherocytosis: A Cohort of 95 Patients: Genotype-Phenotype Correlation in Hereditary Spherocytosis.

van Vuren A et al.

Hemasphere, 2019

Red Blood Cell Membrane Conductance in Hereditary Haemolytic Anaemias.

Petkova-Kirova P et al.

Frontiers in Physiology, 2019

Genome-wide loss of heterozygosity and copy number analysis in melanoma using high-density single-nucleotide polymorphism arrays.

Stark M et al.

Cancer Research, 2007

Tumor suppressor p16INK4A: determination of solution structure and analyses of its interaction with cyclin-dependent kinase 4.

Byeon IJ et al.

Molecular Cell, 1998

Tumor suppressor p16INK4A: structural characterization of wild-type and mutant proteins by NMR and circular dichroism.

Tevelev A et al.

Biochemistry, 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."