Varaico: Literature-Extracted Genetic Variants

Gene:CATSPER1
Variant:p.V652I
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CATSPER1

NM_053054.4:p.V652I

Associated Papers

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

Identification of a novel Scn3b mutation in a Chinese Brugada syndrome pedigree: implications for Nav1.5 electrophysiological properties and intracellular distribution of Nav1.5 and Navβ3.

Fan J et al.

Frontiers in Cardiovascular Medicine, 2024

38450374 (PubMed )
Supplement: Table9.xls › Sheet2

Specific loss of CatSper function is sufficient to compromise fertilizing capacity of human spermatozoa.

Williams HL et al.

Human Reproduction (oxford, England), 2015

26453676 (PubMed )
Supplement: supp_dev243_dev243supp_table2.pdf
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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."