Varaico: Literature-Extracted Genetic Variants

Gene:SYT5
Variant:p.Q121P

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
Selected Variant
1 paper
NM_003180.3
p.Q121P
c.362A>C
Surrounding Variants
1 paper
NM_003180.3
p.Q124P
c.371A>C
1 paper
NM_003180.3
p.R111Q
c.332G>A
1 paper
NM_003180.3
p.E88Q
c.262G>C
1 paper
NM_003180.3
p.Q131L
c.392A>T
1 paper
NM_003180.3
p.M133V
c.397A>G
1 paper
NM_003180.3
p.Y151C
c.452A>G
1 paper
NM_003180.3
p.P154L
c.461C>T
1 paper
NM_003180.3
p.R166Q
c.497G>A
1 paper
NM_003180.3
p.G188fs
c.562_563fs
1 paper
NM_003180.3
p.I207M
c.621C>G
1 paper
NM_003180.3
p.G208R
c.622G>C
1 paper
NM_003180.3
p.G208R
c.622G>A
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