Varaico: Literature-Extracted Genetic Variants

Gene:P2RX7
Variant:p.K579E
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P2RX7

NM_002562.6:p.K579E

Associated Papers

Molecular Characterization of Astrocytoma Progression Towards Secondary Glioblastomas Utilizing Patient-Matched Tumor Pairs.

Seifert M et al.

Cancers, 2020

32604718 (PubMed )
Supplement: cancers-12-01696-s001.zip › Supporting_Tables_and_Figures › Table_S8_ExomeSeq_Predictions.xlsx › MuTect_SNV_Predictions

The C-terminus of human nucleotide receptor P2X7 is critical for receptor oligomerization and N-linked glycosylation.

Wickert LE et al.

Plos One, 2013

Mutation of a dibasic amino acid motif within the C terminus of the P2X7 nucleotide receptor results in trafficking defects and impaired function.

Denlinger LC et al.

Journal of Immunology (baltimore, Md. : 1950), 2003

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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."