Varaico: Literature-Extracted Genetic Variants

Gene:PADI6
Variant:p.G540R
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PADI6

NM_207421.4:p.G540R

Associated Papers

Genetic landscape of human oocyte/embryo defects.

Chen B et al.

Cell Genomics, 2026

41005306 (PubMed )
Supplement: mmc3.xlsx › Table_S2

A novel PADI6 splice-site variant induces non-canonical GC-AG splicing and embryonic arrest in humans.

Hu H et al.

Functional & Integrative Genomics, 2025

Structural insight into the function of human peptidyl arginine deiminase 6.

Williams JPC et al.

Computational and Structural Biotechnology Journal, 2024

39286527 (PubMed )
Supplement: mmc3.xlsx › Fig_6B

PADI6: What we know about the elusive fifth member of the peptidyl arginine deiminase family.

Williams JPC et al.

Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2023

Genetic variants underlying developmental arrests in human preimplantation embryos.

Ozturk S

Molecular Human Reproduction, 2023

A novel homozygous variant in PADI6 is associate with human cleavage-stage embryonic arrest.

Cao G et al.

Frontiers in Genetics, 2023

Novel biallelic mutations in PADI6 in patients with early embryonic arrest.

Dong J et al.

Journal of Human Genetics, 2022

DNA Methylation Dynamics in the Female Germline and Maternal-Effect Mutations That Disrupt Genomic Imprinting.

Anvar Z et al.

Genes, 2021

New biallelic mutations in PADI6 cause recurrent preimplantation embryonic arrest characterized by direct cleavage.

Zheng W et al.

Journal of Assisted Reproduction and Genetics, 2020

Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest.

Xu Y et al.

American Journal of Human Genetics, 2016

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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."