Varaico: Literature-Extracted Genetic Variants

Gene:AKAP4
Variant:p.S64C
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AKAP4

NM_003886.3:p.S64C

Associated Papers

Genetic determinants of testicular sperm extraction outcomes: insights from a large multicentre study of men with non-obstructive azoospermia.

Riera-Escamilla A et al.

Human Reproduction Open, 2025

40896145 (PubMed )
Supplement: hoaf049_supplementary_data.zip › HRO-25-0045-R2-SuppTablesS2-S4_and_S6-S9.xlsx › ST4

Whole exome data prioritization unveils the hidden weight of Mendelian causes of male infertility. A report from the first Italian cohort.

Quarantani G et al.

Plos One, 2023

37540677 (PubMed )
Supplement: pone.0288336.s005.xlsx › Supplementary_Table_IV

A new hemizygous missense mutation, c.454T>C (p.S152P), in AKAP4 gene is associated with asthenozoospermia.

Gu L et al.

Molecular Reproduction and Development, 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."