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NSF c.1099_1100delinsTG ;(p.I367C)
Variant ID: 17-44770422-AT-TG
NM_006178.3(
NSF
):c.1099_1100delinsTG;(p.I367C)
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:
Different states of synaptotagmin regulate evoked versus spontaneous release.
Nature Communications
Bai, Hua H; Xue, Renhao R; Bao, Huan H; Zhang, Leili L; Yethiraj, Arun A; Cui, Qiang Q; Chapman, Edwin R ER
Publication Date: 2016-03-22
Variant appearance in text: NSF: I367C
PubMed Link:
27001899
Variant Present in the following documents:
Main text
ncomms10971.pdf
View BVdb publication page
Linker mutations reveal the complexity of synaptotagmin 1 action during synaptic transmission.
Nature Neuroscience
Liu, Huisheng H; Bai, Hua H; Xue, Renhao R; Takahashi, Hirohide H; Edwardson, J Michael JM; Chapman, Edwin R ER
Publication Date: 2014-05
Variant appearance in text: NSF: I367C
PubMed Link:
24657966
Variant Present in the following documents:
Main text
nihms571144.pdf
View BVdb publication page
Mechanism and function of synaptotagmin-mediated membrane apposition.
Nature Structural & Molecular Biology
Hui, Enfu E; Gaffaney, Jon D JD; Wang, Zhao Z; Johnson, Colin P CP; Evans, Chantell S CS; Chapman, Edwin R ER
Publication Date: 2011-06-05
Variant appearance in text: NSF: I367C
PubMed Link:
21642967
Variant Present in the following documents:
Main text
nihms-292663.pdf
View BVdb publication page