Varaico: Literature-Extracted Genetic Variants

Gene:SYT2
Variant:p.D230N

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.D230N
c.688G>A
Surrounding Variants
1 paper
NM_177402.5
p.I226V
c.676A>G
2 papers
NM_177402.5
p.K242insFs
c.725dupA
3 papers
NM_177402.5
p.V243fs
c.727_728fs
1 paper
NM_177402.5
p.P253delFs
c.757delG
1 paper
NM_177402.5
p.D259G
c.776A>G
1 paper
NM_177402.5
p.G263R
c.787G>C
1 paper
NM_177402.5
p.G263R
c.787G>A
1 paper
NM_177402.5
p.K211_V212Splc
c.633+89T>C
1 paper
NM_177402.5
p.F210L
c.630C>G
1 paper
NM_177402.5
p.F210L
c.630C>A
1 paper
NM_177402.5
p.F210S
c.629T>C
1 paper
NM_177402.5
p.F210L
c.628T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."