Varaico: Literature-Extracted Genetic Variants

Gene:PICK1
Variant:p.G393R
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PICK1

NM_012407.4:p.G393R

Associated Papers

Truncating PICK1 Variant Identified in Azoospermia Affected Mitochondrial Dysfunction in Knockout Mice.

Du YQ et al.

Current Medical Science, 2023

A Functional Variant Rs492554 Associated With Congenital Heart Defects Modulates SESN2 Expression Through POU2F1.

Yang W et al.

Frontiers in Cell and Developmental Biology, 2021

34249922 (PubMed )
Supplement: Table_1.xls › D1D2D3

ICA1L forms BAR-domain complexes with PICK1 and is crucial for acrosome formation in spermiogenesis.

He J et al.

Journal of Cell Science, 2015

Whole exome sequencing combined with integrated variant annotation prediction identifies asymptomatic Tangier disease with compound heterozygous mutations in ABCA1 gene.

Tada H et al.

Atherosclerosis, 2015

Association of mutations in the zona pellucida binding protein 1 (ZPBP1) gene with abnormal sperm head morphology in infertile men.

Yatsenko AN et al.

Molecular Human Reproduction, 2012

A newly discovered mutation in PICK1 in a human with globozoospermia.

Liu G et al.

Asian Journal of Andrology, 2010

Novel DPY19L2 variants in globozoospermic patients and the overcoming this male infertility.

Shang YL et al.

Asian Journal of Andrology, 0

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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."