PC c.214A>G ;(p.T72A)

Variant ID: 11-66639265-T-C

NM_001040716.1(PC):c.214A>G;(p.T72A)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


The enpp4 ectonucleotidase regulates kidney patterning signalling networks in Xenopus embryos.

Communications Biology
Massé, Karine K; Bhamra, Surinder S; Paroissin, Christian C; Maneta-Peyret, Lilly L; Boué-Grabot, Eric E; Jones, Elizabeth A EA
Publication Date: 2021-10-07

Variant appearance in text: PC: T72A
PubMed Link: 34620987
Variant Present in the following documents:
  • Main text
  • 42003_2021_2688_MOESM2_ESM.pdf
  • 42003_2021_Article_2688.pdf
View BVdb publication page



Global Molecular Epidemiology of Respiratory Syncytial Virus from the 2017-2018 INFORM-RSV Study.

Journal Of Clinical Microbiology
Tabor, David E DE; Fernandes, Fiona F; Langedijk, Annefleur C AC; Wilkins, Deidre D; Lebbink, Robert Jan RJ; Tovchigrechko, Andrey A; Ruzin, Alexey A; Kragten-Tabatabaie, Leyla L; Jin, Hong H; Esser, Mark T MT; Bont, Louis J LJ; Abram, Michael E ME; ,
Publication Date: 2020-12-17

Variant appearance in text: PC: T72A
PubMed Link: 33087438
Variant Present in the following documents:
  • JCM.01828-20.pdf
View BVdb publication page



LRRK2 activation controls the repair of damaged endomembranes in macrophages.

The Embo Journal
Herbst, Susanne S; Campbell, Philip P; Harvey, John J; Bernard, Elliott M EM; Papayannopoulos, Venizelos V; Wood, Nicholas W NW; Morris, Huw R HR; Gutierrez, Maximiliano G MG
Publication Date: 2020-09-15

Variant appearance in text: PC: T72A
PubMed Link: 32643832
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular dissection of colorectal cancer in pre-clinical models identifies biomarkers predicting sensitivity to EGFR inhibitors.

Nature Communications
Schütte, Moritz M; Risch, Thomas T; Abdavi-Azar, Nilofar N; Boehnke, Karsten K; Schumacher, Dirk D; Keil, Marlen M; Yildiriman, Reha R; Jandrasits, Christine C; Borodina, Tatiana T; Amstislavskiy, Vyacheslav V; Worth, Catherine L CL; Schweiger, Caroline C; Liebs, Sandra S; Lange, Martin M; Warnatz, Hans-Jörg HJ; Butcher, Lee M LM; Barrett, James E JE; Sultan, Marc M; Wierling, Christoph C; Golob-Schwarzl, Nicole N; Lax, Sigurd S; Uranitsch, Stefan S; Becker, Michael M; Welte, Yvonne Y; Regan, Joseph Lewis JL; Silvestrov, Maxine M; Kehler, Inge I; Fusi, Alberto A; Kessler, Thomas T; Herwig, Ralf R; Landegren, Ulf U; Wienke, Dirk D; Nilsson, Mats M; Velasco, Juan A JA; Garin-Chesa, Pilar P; Reinhard, Christoph C; Beck, Stephan S; Schäfer, Reinhold R; Regenbrecht, Christian R A CR; Henderson, David D; Lange, Bodo B; Haybaeck, Johannes J; Keilholz, Ulrich U; Hoffmann, Jens J; Lehrach, Hans H; Yaspo, Marie-Laure ML
Publication Date: 2017-02-10

Variant appearance in text: PC: T72A
PubMed Link: 28186126
Variant Present in the following documents:
  • ncomms14262-s5.xlsx, sheet 2
View BVdb publication page



Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests.

Orphanet Journal Of Rare Diseases
Andreotti, Giuseppina G; Citro, Valentina V; De Crescenzo, Agostina A; Orlando, Pierangelo P; Cammisa, Marco M; Correra, Antonella A; Cubellis, Maria Vittoria MV
Publication Date: 2011-10-17

Variant appearance in text: PC: 214A>G
PubMed Link: 22004918
Variant Present in the following documents:
  • Main text
  • 1750-1172-6-66.pdf
View BVdb publication page