Varaico: Literature-Extracted Genetic Variants

Gene:SYCE1
Variant:p.A66Splc
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SYCE1

NM_001143764.3:p.A66Splc

Associated Papers

Genetic Testing for Monogenic Forms of Male Infertility Contributes to the Clinical Diagnosis of Men with Severe Idiopathic Male Infertility.

Podgrajsek R et al.

The World Journal of Men's Health, 2025

39843174 (PubMed )
Supplement: wjmh-43-908-s001.pdf

Defects in mRNA splicing and implications for infertility: a comprehensive review and in silico analysis.

Li K et al.

Human Reproduction Update, 2025

Mouse modeling of familial human SYCE1 c.197-2A>G splice site mutation leads to meiotic recombination failure and non-obstructive azoospermia.

García-Martínez OI et al.

Molecular Human Reproduction, 2025

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 › ST6

Genetic variants underlying spermatogenic arrests in men with non-obstructive azoospermia.

Ozturk S

Cell Cycle (georgetown, Tex.), 2023

Genetic control of meiosis surveillance mechanisms in mammals.

Huang Y et al.

Frontiers in Cell and Developmental Biology, 2023

36910159 (PubMed )
Supplement: DataSheet2.PDF

Novel copy number variations within SYCE1 caused meiotic arrest and non-obstructive azoospermia.

Huang Y et al.

Bmc Medical Genomics, 2022

Identification of deleterious variants in patients with male infertility due to idiopathic non-obstructive azoospermia.

Tang D et al.

Reproductive Biology and Endocrinology : Rb&e, 2022

Novel exon mutation in SYCE1 gene is associated with non-obstructive azoospermia.

Feng K et al.

Journal of Cellular and Molecular Medicine, 2022

Alterations in synaptonemal complex coding genes and human infertility.

Zhang F et al.

International Journal of Biological Sciences, 2022

Meiotic chromosome synapsis depends on multivalent SYCE1-SIX6OS1 interactions that are disrupted in cases of human infertility.

Sánchez-Sáez F et al.

Science Advances, 2020

The second mutation of SYCE1 gene associated with autosomal recessive nonobstructive azoospermia.

Pashaei M et al.

Journal of Assisted Reproduction and Genetics, 2020

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var

A systematic review on the genetics of male infertility in the era of next-generation sequencing.

Robay A et al.

Arab Journal of Urology, 2018

Deleterious mutation in SYCE1 is associated with non-obstructive azoospermia.

Maor-Sagie E et al.

Journal of Assisted Reproduction and Genetics, 2015

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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."