Varaico: Literature-Extracted Genetic Variants

Gene:SYT2
Variant:p.E133K

SYT2

87 papers

RefSeq Summary

This gene encodes a synaptic vesicle membrane protein. The encoded protein is thought to function as a calcium sensor in vesicular trafficking and exocytosis. Mutations in this gene are associated wit...

Pfam Domains

C2aa 154–260UCSCC2 domain
C2aa 285–391UCSCC2 domain

Gene Aliases

HGNC Name

synaptotagmin 2

HGNC Previous Name

synaptotagmin II

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_177402.5
p.E133K
c.397G>A
Surrounding Variants
1 paper
NM_177402.5
p.K135R
c.404A>G
1 paper
NM_177402.5
p.T125_E126del2
c.373_377del6
1 paper
NM_177402.5
p.T125_E126delFs
c.374_377del4
1 paper
NM_177402.5
p.G141D
c.422G>A
1 paper
NM_177402.5
p.E121E
c.363G>A
1 paper
NM_177402.5
p.Q144L
c.431A>T
1 paper
NM_177402.5
p.D119D
c.357C>T
1 paper
NM_177402.5
p.D117E
c.351C>G
1 paper
NM_177402.5
p.D117E
c.351C>A
1 paper
NM_177402.5
p.Q152H
c.456G>T
1 paper
NM_177402.5
p.Q152H
c.456G>C
3 papers
NM_177402.5
p.Q155_L156Splc
c.465+1G>A
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