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PC c.701T>G ;(p.F234C)
Variant ID: 11-66638296-A-C
NM_001040716.1(
PC
):c.701T>G;(p.F234C)
This variant was identified in 6 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: PC: F234C
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: PC: F234C
PubMed Link:
24657966
Variant Present in the following documents:
Main text
nihms571144.pdf
View BVdb publication page
Synaptotagmin arrests the SNARE complex before triggering fast, efficient membrane fusion in response to Ca2+.
Nature Structural & Molecular Biology
Chicka, Michael C MC; Hui, Enfu E; Liu, Huisheng H; Chapman, Edwin R ER
Publication Date: 2008-08
Variant appearance in text: PC: F234C
PubMed Link:
18622390
Variant Present in the following documents:
Main text
nihms58730.pdf
View BVdb publication page
A quaternary SNARE-synaptotagmin-Ca2+-phospholipid complex in neurotransmitter release.
Journal Of Molecular Biology
Dai, Han H; Shen, Nan N; AraƧ, Demet D; Rizo, Josep J
Publication Date: 2007-03-30
Variant appearance in text: PC: F234C
PubMed Link:
17320903
Variant Present in the following documents:
Main text
View BVdb publication page
Ca2+-triggered simultaneous membrane penetration of the tandem C2-domains of synaptotagmin I.
Biophysical Journal
Hui, Enfu E; Bai, Jihong J; Chapman, Edwin R ER
Publication Date: 2006-09-01
Variant appearance in text: PC: F234C
PubMed Link:
16782782
Variant Present in the following documents:
Main text
View BVdb publication page
C2A activates a cryptic Ca(2+)-triggered membrane penetration activity within the C2B domain of synaptotagmin I.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Bai, Jihong J; Wang, Ping P; Chapman, Edwin R ER
Publication Date: 2002-02-05
Variant appearance in text: PC: F234C
PubMed Link:
11805296
Variant Present in the following documents:
Main text
View BVdb publication page