Varaico: Literature-Extracted Genetic Variants

Gene:SYT5

SYT5

32 papers

RefSeq Summary

Synaptotagmins, such as SYT5, are a family of type III membrane proteins characterized by cytoplasmic repeats related to protein kinase C (see MIM 176960) regulatory (C2) domains, which are thought to...

Pfam Domains

C2aa 123–229UCSCC2 domain
C2aa 254–360UCSCC2 domain

Gene Aliases

HGNC Name

synaptotagmin 5

HGNC Previous Name

synaptotagmin V

Papers
RefSeq ID
Protein change
DNA change
1–12 of 29 variants
1 paper
NM_003180.3
p.E4D
c.12G>T
1 paper
NM_003180.3
p.E4D
c.12G>C
1 paper
NM_003180.3
p.D14Y
c.40G>T
1 paper
NM_003180.3
p.D18V
c.53A>T
1 paper
NM_003180.3
p.R21P
c.62G>C
1 paper
NM_003180.3
p.V38I
c.112G>A
1 paper
NM_003180.3
p.S39S
c.117A>G
1 paper
NM_003180.3
p.C49F
c.146G>T
1 paper
NM_003180.3
p.G78A
c.233G>C
1 paper
NM_003180.3
p.E88Q
c.262G>C
1 paper
NM_003180.3
p.R111Q
c.332G>A
1 paper
NM_003180.3
p.Q121P
c.362A>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."