P2RX7 c.1298C>T ;(p.A433V)

Variant ID: 12-121622115-C-T

NM_002562.5(P2RX7):c.1298C>T;(p.A433V)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Origin, distribution, and function of three frequent coding polymorphisms in the gene for the human P2X7 ion channel.

Frontiers In Pharmacology
Schäfer, Waldemar W; Stähler, Tobias T; Pinto Espinoza, Carolina C; Danquah, Welbeck W; Knop, Jan Hendrik JH; Rissiek, Björn B; Haag, Friedrich F; Koch-Nolte, Friedrich F
Publication Date: 2022

Variant appearance in text: rs28360459
PubMed Link: 36467077
Variant Present in the following documents:
  • Main text
  • fphar-13-1033135.pdf
View BVdb publication page



SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications
Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X
Publication Date: 2022-02-08

Variant appearance in text: P2RX7: A433V
PubMed Link: 35136070
Variant Present in the following documents:
  • 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Purinergic receptors P2RX4 and P2RX7 in familial multiple sclerosis.

Human Mutation
Sadovnick, A Dessa AD; Gu, Ben J BJ; Traboulsee, Anthony L AL; Bernales, Cecily Q CQ; Encarnacion, Mary M; Yee, Irene M IM; Criscuoli, Maria G MG; Huang, Xin X; Ou, Amber A; Milligan, Carol J CJ; Petrou, Steven S; Wiley, James S JS; Vilariño-Güell, Carles C
Publication Date: 2017-06

Variant appearance in text: P2RX7: 1298C>T; rs28360459
PubMed Link: 28326637
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs28360459
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: P2RX7: A433V
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



P2X7 receptor activation mediates organic cation uptake into human myeloid leukaemic KG-1 cells.

Purinergic Signalling
Gadeock, Safina S; Pupovac, Aleta A; Sluyter, Vanessa V; Spildrejorde, Mari M; Sluyter, Ronald R
Publication Date: 2012-12

Variant appearance in text: P2X7: A433V; rs28360459
PubMed Link: 22661222
Variant Present in the following documents:
  • Main text
View BVdb publication page



Transcriptional control mechanisms associated with the nucleotide receptor P2X7, a critical regulator of immunologic, osteogenic, and neurologic functions.

Immunologic Research
Lenertz, Lisa Y LY; Gavala, Monica L ML; Zhu, Yiming Y; Bertics, Paul J PJ
Publication Date: 2011-05

Variant appearance in text: P2X7: A433V
PubMed Link: 21298493
Variant Present in the following documents:
  • Main text
View BVdb publication page