Varaico: Literature-Extracted Genetic Variants

Gene:SYT11
Variant:p.S417R

SYT11

64 papers

RefSeq Summary

This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that are known calcium sensors and mediate calcium-dependent regulation of membrane traffic...

Pfam Domains

C2aa 172–279UCSCC2 domain
C2aa 306–414UCSCC2 domain

Gene Aliases

HGNC Name

synaptotagmin 11

HGNC Alias Symbols

KIAA0080; MGC10881; MGC17226; DKFZp781D015

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152280.5
p.S417R
c.1249A>C
Surrounding Variants
1 paper
NM_152280.5
p.S417R
c.1251C>A
1 paper
NM_152280.5
p.S417R
c.1251C>G
1 paper
NM_152280.5
p.R419L
c.1256G>T
1 paper
NM_152280.5
p.E409K
c.1225G>A
1 paper
NM_152280.5
p.G394R
c.1180G>A
1 paper
NM_152280.5
p.E391Q
c.1171G>C
1 paper
NM_152280.5
p.T387T
c.1161C>A
1 paper
NM_152280.5
p.R386S
c.1156C>A
1 paper
NM_152280.5
p.A344T
c.1030G>A
2 papers
NM_152280.5
p.R342C
c.1024C>T
1 paper
NM_152280.5
p.N329Splc
c.985+1G>A
1 paper
NM_152280.5
p.V310V
c.930G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."