Gene: SYT1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555226395
rs1555226395
SYT1
A 0.700 GeneticVariation CLINVAR ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects. 27476655

2016
dbSNP: rs1555226395
rs1555226395
SYT1
A 0.700 GeneticVariation CLINVAR Bruchpilot and Synaptotagmin collaborate to drive rapid glutamate release and active zone differentiation. 25698934

2015
dbSNP: rs1555226395
rs1555226395
SYT1
A 0.700 GeneticVariation CLINVAR Dynamic binding mode of a Synaptotagmin-1-SNARE complex in solution. 26030874

2015
dbSNP: rs1555226395
rs1555226395
SYT1
A 0.700 GeneticVariation CLINVAR Transmembrane tethering of synaptotagmin to synaptic vesicles controls multiple modes of neurotransmitter release. 25775572

2015
dbSNP: rs1555226395
rs1555226395
SYT1
A 0.700 GeneticVariation CLINVAR Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling. 25705886

2015
dbSNP: rs1555226395
rs1555226395
SYT1
A 0.700 GeneticVariation CLINVAR Neurotransmitter release: the last millisecond in the life of a synaptic vesicle. 24183019

2013
dbSNP: rs1555226395
rs1555226395
SYT1
A 0.700 GeneticVariation CLINVAR Genetic analysis of synaptotagmin C2 domain specificity in regulating spontaneous and evoked neurotransmitter release. 23283333

2013
dbSNP: rs1555226395
rs1555226395
SYT1
A 0.700 GeneticVariation CLINVAR Membrane penetration by synaptotagmin is required for coupling calcium binding to vesicle fusion in vivo. 21307261

2011
dbSNP: rs1555226395
rs1555226395
SYT1
A 0.700 GeneticVariation CLINVAR Cyclic AMP-mediated endocytosis of intestinal epithelial NHE3 requires binding to synaptotagmin 1. 19926819

2010
dbSNP: rs1555226395
rs1555226395
SYT1
A 0.700 GeneticVariation CLINVAR DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. 19344873

2009
dbSNP: rs1555226395
rs1555226395
SYT1
A 0.700 GeneticVariation CLINVAR How does synaptotagmin trigger neurotransmitter release? 18275379

2008
dbSNP: rs1555226395
rs1555226395
SYT1
A 0.700 GeneticVariation CLINVAR Kinetic efficiency of endocytosis at mammalian CNS synapses requires synaptotagmin I. 15492212

2004
dbSNP: rs1555226395
rs1555226395
SYT1
A 0.700 GeneticVariation CLINVAR N-glycosylation is essential for vesicular targeting of synaptotagmin 1. 14715137

2004
dbSNP: rs1555226395
rs1555226395
SYT1
A 0.700 GeneticVariation CLINVAR Dual roles of the C2B domain of synaptotagmin I in synchronizing Ca2+-dependent neurotransmitter release. 15456828

2004
dbSNP: rs1555226395
rs1555226395
SYT1
A 0.700 GeneticVariation CLINVAR The C(2)B Ca(2+)-binding motif of synaptotagmin is required for synaptic transmission in vivo. 12110842

2002
dbSNP: rs1555226395
rs1555226395
SYT1
A 0.700 GeneticVariation CLINVAR Drosophila synaptotagmin I null mutants survive to early adulthood. 11668675

2001
dbSNP: rs1555226395
rs1555226395
SYT1
A 0.700 GeneticVariation CLINVAR Defective recycling of synaptic vesicles in synaptotagmin mutants of Caenorhabditis elegans. 7477324

1995
dbSNP: rs1555226395
rs1555226395
SYT1
A 0.700 GeneticVariation CLINVAR Synaptotagmin I: a major Ca2+ sensor for transmitter release at a central synapse. 7954835

1994