Varaico: Literature-Extracted Genetic Variants

Gene:AURKC
Variant:p.Y248*
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AURKC

NM_001015878.2:p.Y248*

Associated Papers

Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.

Marianski K et al.

Human Genetics, 2025

41442065 (PubMed )
Supplement: 439_2025_2796_MOESM4_ESM.xlsx › ST2

Genetic etiological spectrum of sperm morphological abnormalities.

Arora M et al.

Journal of Assisted Reproduction and Genetics, 2024

Computational study of the potential impact of AURKC missense SNPs on AURKC-INCENP interaction and their correlation to macrozoospermia.

Redouane S et al.

Journal of Biomolecular Structure & Dynamics, 2023

Genetic screening in a Brazilian cohort with inborn errors of immunity.

Ferreira CS et al.

Bmc Genomic Data, 2023

37592284 (PubMed )
Supplement: 12863_2023_1148_MOESM5_ESM.xlsx › Secondary_variants

Identification of novel candidate genes associated with meiotic aneuploidy in human embryos by whole-exome sequencing.

Lledo B et al.

Journal of Assisted Reproduction and Genetics, 2023

Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders.

Colin E et al.

Frontiers in Cell and Developmental Biology, 2023

Evaluation of a Custom Design Gene Panel as a Diagnostic Tool for Human Non-Syndromic Infertility.

Okutman O et al.

Genes, 2021

Preconception genome medicine: current state and future perspectives to improve infertility diagnosis and reproductive and health outcomes based on individual genomic data.

Capalbo A et al.

Human Reproduction Update, 2021

Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.

Zeng B et al.

Frontiers in Oncology, 2021

33889545 (PubMed )
Supplement: Table_5.XLSX › Sheet1

Two frequent loss-of-function mutations in Aurora Kinase C gene in Algerian infertile men with macrozoospermia.

Hamza L et al.

Andrologia, 2020

Compound heterozygosity for novel AURKC mutations in an infertile man with macrozoospermia.

Bai S et al.

Andrologia, 2020

Mutational analysis of Aurora kinase C gene in Egyptian patients with macrozoospermia.

Kobesiy MM et al.

Andrologia, 2020

Whole-exome sequencing identified a novel mutation of AURKC in a Chinese family with macrozoospermia.

Hua J et al.

Journal of Assisted Reproduction and Genetics, 2019

Genetics of male infertility.

Krausz C et al.

Nature Reviews. Urology, 2018

Testing for genetic contributions to infertility: potential clinical impact.

Krausz C et al.

Expert Review of Molecular Diagnostics, 2018

Diagnostic genetic screening for assisted reproductive technologies patients with macrozoospermia.

Carmignac V et al.

Andrology, 2017

Characterization of macrozoospermia-associated AURKC mutations in a mammalian meiotic system.

Fellmeth JE et al.

Human Molecular Genetics, 2016

Macrozoospermia: screening for the homozygous c.144delC mutation in AURKC gene in infertile men and estimation of its heterozygosity frequency in the Tunisian population.

Ghédir H et al.

Journal of Assisted Reproduction and Genetics, 2015

Comprehensive investigation in patients affected by sperm macrocephaly and globozoospermia.

Chianese C et al.

Andrology, 2015

Identification of a new recurrent aurora kinase C mutation in both European and African men with macrozoospermia.

Ben Khelifa M et al.

Human Reproduction (oxford, England), 2012

Mutations of the aurora kinase C gene causing macrozoospermia are the most frequent genetic cause of male infertility in Algerian men.

Ounis L et al.

Asian Journal of Andrology, 0

Teratozoospermia: spotlight on the main genetic actors in the human.

Coutton C et al.

Human Reproduction Update, 0

Macrozoospermia associated with mutations of AURKC gene: First case report in Latin America and literature review.

Ortega V et al.

Revista Internacional De Andrologia, 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."