Bibliome.ai browser hg19
Search
About
Stats
FAQ
TTN c.2362T>G ;(p.S788A)
Variant ID: 2-179650583-A-C
NM_001267550.1(
TTN
):c.2362T>G;(p.S788A)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Role of the Ion Channel Extracellular Collar in AMPA Receptor Gating.
Scientific Reports
Yelshanskaya, Maria V MV; Mesbahi-Vasey, Samaneh S; Kurnikova, Maria G MG; Sobolevsky, Alexander I AI
Publication Date: 2017-04-21
Variant appearance in text: TMD: S788A
PubMed Link:
28432359
Variant Present in the following documents:
Main text
41598_2017_1146_MOESM1_ESM.pdf
41598_2017_Article_1146.pdf
View BVdb publication page
Structural Bases of Noncompetitive Inhibition of AMPA-Subtype Ionotropic Glutamate Receptors by Antiepileptic Drugs.
Neuron
Yelshanskaya, Maria V MV; Singh, Appu K AK; Sampson, Jared M JM; Narangoda, Chamali C; Kurnikova, Maria M; Sobolevsky, Alexander I AI
Publication Date: 2016-09-21
Variant appearance in text: TMD: S788A
PubMed Link:
27618672
Variant Present in the following documents:
Main text
View BVdb publication page