Varaico: Literature-Extracted Genetic Variants

Gene:P2RX7
Variant:p.P582S
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P2RX7

NM_002562.6:p.P582S

Associated Papers

In utero tumor development and identification of CTNNB1 mutation in a newborn case of ossifying renal tumor of infancy.

Kasai S et al.

Pediatric Blood & Cancer, 2024

38217079 (PubMed )
Supplement: supplement_1.xlsx › SNVs

Germline genetic patterns underlying familial rheumatoid arthritis, systemic lupus erythematosus and primary Sjögren's syndrome highlight T cell-initiated autoimmunity.

Wang Y et al.

Annals of the Rheumatic Diseases, 2020

Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing.

Wang Y et al.

Scientific Reports, 2017

28074849 (PubMed )
Supplement: srep40319-s4.xls › Sheet1

Inferring primary tumor sites from mutation spectra: a meta-analysis of histology-specific aberrations in cancer-derived cell lines.

Dietlein F et al.

Human Molecular Genetics, 2014

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

Wickert LE et al.

Plos One, 2013

CanDrA: cancer-specific driver missense mutation annotation with optimized features.

Mao Y et al.

Plos One, 2013

24205039 (PubMed )
Supplement: pone.0077945.s001.xls › Table_S4
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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."