Varaico: Literature-Extracted Genetic Variants

Gene:SPEF2
Variant:p.R421H
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SPEF2

NM_024867.4:p.R421H

Associated Papers

Identification of Poor Prognostic Markers in Triple-Negative Breast Cancer Using Whole Exome Sequencing.

Lee S et al.

Journal of Breast Cancer, 2025

41311331 (PubMed )
Supplement: jbc-28-406-s001.xls › jbc-28-406-s001

Establishment and clinical significance of genetic factor screening method for patients with nonobstructive azoospermia based on whole exon sequencing technology.

Yao W et al.

Translational Andrology and Urology, 2025

Family-based exome sequencing identifies rare coding variants in age-related macular degeneration.

Ratnapriya R et al.

Human Molecular Genetics, 2020

Whole exome sequencing in 75 high-risk families with validation and replication in independent case-control studies identifies TANGO2, OR5H14, and CHAD as new prostate cancer susceptibility genes.

Karyadi DM et al.

Oncotarget, 2017

27902461 (PubMed )
Supplement: oncotarget-08-1495-s003.xlsx › Sheet1
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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."