Varaico: Literature-Extracted Genetic Variants

Gene:PANX1
Variant:p.C347S
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PANX1

NM_015368.4:p.C347S

Associated Papers

Genetic landscape of human oocyte/embryo defects.

Chen B et al.

Cell Genomics, 2026

41005306 (PubMed )
Supplement: mmc3.xlsx › Table_S2

Pannexin-1 channel activity regulates neurogenesis and cell survival in the developing cortex.

Hylton NK et al.

Biorxiv : the Preprint Server for Biology, 2026

Advances in monogenic female infertility.

Gu H et al.

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

The C-terminal activating domain promotes pannexin 1 channel opening.

Henze E et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

Advances in the genetic etiology of female infertility.

Gu R et al.

Journal of Assisted Reproduction and Genetics, 2024

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

ConVarT: a search engine for matching human genetic variants with variants from non-human species.

Pir MS et al.

Nucleic Acids Research, 2022

34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S14.xls › human_pat_mouse_unk_orthovar_14

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

Pannexin 1, an ATP release channel, is activated by caspase cleavage of its pore-associated C-terminal autoinhibitory region.

Sandilos JK et al.

The Journal of Biological Chemistry, 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."