Varaico: Literature-Extracted Genetic Variants

Gene:AKAP4
Variant:p.R429C
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AKAP4

NM_003886.3:p.R429C

Associated Papers

Genetic etiological spectrum of sperm morphological abnormalities.

Arora M et al.

Journal of Assisted Reproduction and Genetics, 2024

The Molecular Basis of Multiple Morphological Abnormalities of Sperm Flagella and Its Impact on Clinical Practice.

Zhou Y et al.

Genes, 2024

β-catenin mediates growth defects induced by centrosome loss in a subset of APC mutant colorectal cancer independently of p53.

Bourmoum M et al.

Plos One, 2024

38324534 (PubMed )
Supplement: pone.0295030.s003.xlsx › 3samples.exome.dp5.snvindel

A pathogenic AKAP4 variant, p.R429H, causes male in/subfertility in humans and mice.

Wei H et al.

Clinical and Translational Medicine, 2023

Loss-of-function missense variant of AKAP4 induced male infertility through reduced interaction with QRICH2 during sperm flagella development.

Zhang G et al.

Human Molecular Genetics, 2021

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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."