Varaico: Literature-Extracted Genetic Variants

Gene:ANK1
Variant:p.W1226R
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ANK1

NM_001142446.2:p.W1226R

Associated Papers

Spherocytosis-Related L1340P Mutation in Ankyrin Affects Its Interactions with Spectrin.

Machnicka B et al.

Life (basel, Switzerland), 2023

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

Novel SPTB frameshift mutation in a Chinese neonatal case of hereditary spherocytosis type 2: A case report.

Xu C et al.

Experimental and Therapeutic Medicine, 2022

35949318 (PubMed )
Supplement: Supplementary_Data.pdf

Mutational Characteristics of Causative Genes in Chinese Hereditary Spherocytosis Patients: a Report on Fourteen Cases and a Review of the Literature.

Wang D et al.

Frontiers in Pharmacology, 2021

34335240 (PubMed )
Supplement: Table1.DOCX

[The characteristic of hereditary spherocytosis related gene mutation in 37 Chinese hereditary spherocytisis patients].

Peng GX et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2018

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

Luo Y et al.

Acta Haematologica, 2018

Structurally similar but functionally diverse ZU5 domains in human erythrocyte ankyrin.

Yasunaga M et al.

Journal of Molecular Biology, 2012

Structure of the ZU5-ZU5-UPA-DD tandem of ankyrin-B reveals interaction surfaces necessary for ankyrin function.

Wang C et al.

Proceedings of the National Academy of Sciences of the United States of America, 2012

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