Varaico: Literature-Extracted Genetic Variants

Gene:PANX1
Variant:p.K346E
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PANX1

NM_015368.4:p.K346E

Associated Papers

Genetic landscape of human oocyte/embryo defects.

Chen B et al.

Cell Genomics, 2026

41005306 (PubMed )
Supplement: mmc3.xlsx › Table_S2

Advances in monogenic female infertility.

Gu H et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025

A novel heterozygous variant in PANX1 causes primary infertility due to oocyte death.

Zhou J et al.

Journal of Assisted Reproduction and Genetics, 2023

A novel heterozygous variant in PANX1 is associated with oocyte death and female infertility.

Wu XW et al.

Journal of Assisted Reproduction and Genetics, 2022

Homozygous variants in PANX1 cause human oocyte death and female infertility.

Wang W et al.

European Journal of Human Genetics : Ejhg, 2021

Pannexin 1 Transgenic Mice: Human Diseases and Sleep-Wake Function Revision.

Battulin N et al.

International Journal of Molecular Sciences, 2021

Mutational effects of Pannexin 1 R217H depend on the carboxyl-terminus.

Purohit R et al.

Biochemical and Biophysical Research Communications, 2021

Pannexin 1 mutation found in melanoma tumor reduces phosphorylation, glycosylation, and trafficking of the channel-forming protein.

Nouri-Nejad D et al.

Molecular Biology of the Cell, 2021

Structural basis for gating mechanism of Pannexin 1 channel.

Mou L et al.

Cell Research, 2020

Cryo-EM structures of the ATP release channel pannexin 1.

Deng Z et al.

Nature Structural & Molecular Biology, 2020

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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."