Varaico: Literature-Extracted Genetic Variants

Gene:SEPTIN12
Variant:p.V158V
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SEPTIN12

NM_144605.5:p.V158V

Associated Papers

A novel SEPT12 mutation, T96I, is associated with sperm head and annulus defects.

Chen KR et al.

Frontiers in Cell and Developmental Biology, 2024

SEPTIN12 c.474 G > A polymorphism as a risk factor in teratozoospermic patients.

Özkara G et al.

Molecular Biology Reports, 2021

A SNP involved in alternative splicing of ABCB1 is associated with clopidogrel resistance in coronary heart disease in Chinese population.

Zhang S et al.

Aging, 2020

Single-nucleotide polymorphism c.474G>A in the SEPT12 gene is a predisposing factor in male infertility.

Rafaee A et al.

Molecular Reproduction and Development, 2020

Testis-Specific SEPT12 Expression Affects SUN Protein Localization and is Involved in Mammalian Spermiogenesis.

Yeh CH et al.

International Journal of Molecular Sciences, 2019

Association of single nucleotide polymorphism c.673C>A/p.Gln225Lys in SEPT12 gene with spermatogenesis failure in male idiopathic infertility in Northeast China.

Geng D et al.

The Journal of International Medical Research, 2019

CDC42 Negatively Regulates Testis-Specific SEPT12 Polymerization.

Huang CY et al.

International Journal of Molecular Sciences, 2018

SEPT12/SPAG4/LAMINB1 complexes are required for maintaining the integrity of the nuclear envelope in postmeiotic male germ cells.

Yeh CH et al.

Plos One, 2015

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M et al.

Genome Biology, 2014

24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf

SEPTIN12 genetic variants confer susceptibility to teratozoospermia.

Lin YH et al.

Plos One, 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."