Varaico: Literature-Extracted Genetic Variants

Gene:CDC14A
Variant:p.R339*
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CDC14A

NM_003672.4:p.R339*

Associated Papers

A truncated CDC14A retains catalytic structure and phosphatase activity preserving male fertility but causes nonsyndromic deafness.

Shabbir K et al.

The Journal of Biological Chemistry, 2026

Somatic mutations in tumor-infiltrating lymphocytes impact on antitumor immunity.

Mukohara F et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

39167601 (PubMed )
Supplement: pnas.2320189121.sd03.xlsx › Dataset_S3

Delineating the Disease Boundaries: Homozygous CDC14A Variants Underlying Nonsyndromic Hearing Loss and Hearing Impairment Infertile Male Syndrome.

Zehri Z et al.

Molecular Syndromology, 2024

When transcripts matter: delineating between non-syndromic hearing loss DFNB32 and hearing impairment infertile male syndrome (HIIMS).

Mohseni M et al.

Journal of Human Genetics, 2020

Novel Loss-of-Function Variants in CDC14A are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients.

Doll J et al.

International Journal of Molecular Sciences, 2020

CDC14A phosphatase is essential for hearing and male fertility in mouse and human.

Imtiaz A et al.

Human Molecular Genetics, 2018

Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness.

Delmaghani S et al.

American Journal of Human Genetics, 2016

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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."