Varaico: Literature-Extracted Genetic Variants

Gene:AKAP3
Variant:p.I500T
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AKAP3

NM_001278309.2:p.I500T

Associated Papers

A systematic review and evidence assessment of monogenic gene-disease relationships in human male infertility.

Zhao Q et al.

Frontiers in Endocrinology, 2025

40951413 (PubMed )
Supplement: Table2.xlsx › All_articles_and_genes

Expanding the phenotypic spectrum associated with CFAP43 mutations: a case report of familial male infertility with respiratory manifestations.

Awad F et al.

Frontiers in Reproductive Health, 2025

41341611 (PubMed )
Supplement: Datasheet1.xlsx › Patient_1

Whole exome sequencing and machine learning germline analysis of individuals presenting with extreme phenotypes of high and low risk of developing tobacco-associated lung adenocarcinoma.

Patiño-García A et al.

Ebiomedicine, 2024

38484556 (PubMed )
Supplement: mmc1.xlsx › Supp_Table_2

Evaluation of The 1499T>C Variant in The AKAP3 Gene of Infertile Men with Multiple Morphological Abnormalities of The Sperm Flagella Phenotype: A Case-Control Study.

Poursafari Talemi E et al.

International Journal of Fertility & Sterility, 2024

Structural modeling of human AKAP3 protein and in silico analysis of single nucleotide polymorphisms associated with sperm motility.

Rafaee A et al.

Scientific Reports, 2022

SNP-based large-scale identification of allele-specific gene expression in human B cells.

Song MY et al.

Gene, 2012

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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."