Varaico: Literature-Extracted Genetic Variants

Gene:SYTL3
Variant:p.R228Q

SYTL3

56 papers

RefSeq Summary

The protein encoded by this gene belongs to a family of peripheral membrane proteins that play a role in vesicular trafficking. This protein binds phospholipids in the presence of calcium ions. Altern...

Pfam Domains

FYVE_2aa 8–124UCSCFYVE-type zinc finger
C2aa 321–433UCSCC2 domain
C2aa 480–586UCSCC2 domain

Gene Aliases

HGNC Name

synaptotagmin like 3

HGNC Alias Symbols

SLP3; exophilin-6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001242394.2
p.R228Q
c.683G>A
Surrounding Variants
1 paper
NM_001242394.2
p.V237I
c.709G>A
1 paper
NM_001242394.2
p.S209F
c.626C>T
3 papers
NM_001242394.2
p.T208I
c.623C>T
1 paper
NM_001242394.2
p.R240_K241Splc
c.720+1893A>G
1 paper
NM_001242394.2
p.Q253*
c.757C>T
1 paper
NM_001242394.2
p.N268K
c.804T>A
1 paper
NM_001242394.2
p.N268K
c.804T>G
1 paper
NM_001242394.2
p.P273L
c.818C>T
2 papers
NM_001242394.2
p.R172_L173Splc
c.516+1G>T
1 paper
NM_001242394.2
p.S162I
c.485G>T
1 paper
NM_001242394.2
p.P156_T157insGC
c.466_470ins6
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