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PC c.748_749delinsAC ;(p.L250T)
Variant ID: 11-66638248-AA-GT
NM_001040716.1(
PC
):c.748_749delinsAC;(p.L250T)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Identification of a New Cholesterol-Binding Site within the IFN-γ Receptor that is Required for Signal Transduction.
Advanced Science (Weinheim, Baden-Wurttemberg, Germany)
Morana, Ornella O; Nieto-Garai, Jon Ander JA; Björkholm, Patrik P; Bernardino de la Serna, Jorge J; Terrones, Oihana O; Arboleya, Aroa A; Ciceri, Dalila D; Rojo-Bartolomé, Iratxe I; Blouin, Cédric M CM; Lamaze, Christophe C; Lorizate, Maier M; Contreras, Francesc-Xabier FX
Publication Date: 2022-04
Variant appearance in text: PC: L250T
PubMed Link:
35166455
Variant Present in the following documents:
ADVS-9-2105170.pdf
View BVdb publication page
Effects of neuromuscular presynaptic muscarinic M1 receptor blockade on rocuronium-induced neuromuscular blockade in immobilized tibialis anterior muscles.
Clinical And Experimental Pharmacology & Physiology
Kim, Yong Beom YB; Yang, Hong-Seuk HS; Kim, Ha Jung HJ; Choi, Hey-Ran HR; In, Junyong J; Yoon, Soon-Young SY; Ro, Young Jin YJ
Publication Date: 2018-12
Variant appearance in text: PC: L250T
PubMed Link:
30005130
Variant Present in the following documents:
CEP-45-1309.pdf
View BVdb publication page
The single-channel properties of human acetylcholine alpha 7 receptors are altered by fusing alpha 7 to the green fluorescent protein.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Fucile, Sergio S; Palma, Eleonora E; Martinez-Torres, Ataulfo A; Miledi, Ricardo R; Eusebi, Fabrizio F
Publication Date: 2002-03-19
Variant appearance in text: PC: L250T
PubMed Link:
11891309
Variant Present in the following documents:
Main text
View BVdb publication page