Varaico: Literature-Extracted Genetic Variants

Gene:SNPH
Variant:p.S56A

SNPH

46 papers

RefSeq Summary

Syntaxin-1, synaptobrevin/VAMP, and SNAP25 interact to form the SNARE complex, which is required for synaptic vesicle docking and fusion. The protein encoded by this gene is membrane-associated and in...

Pfam Domains

Syntaphilinaa 18–329UCSCGolgi-localised syntaxin-1-binding clamp

Gene Aliases

HGNC Name

syntaphilin

HGNC Alias Symbol

bA314N13.5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001318234.2
p.S56A
c.166T>G
Surrounding Variants
1 paper
NM_001318234.2
p.G31G
c.93G>C
1 paper
NM_001318234.2
p.R24H
c.71G>A
1 paper
NM_001318234.2
p.A19V
c.56C>T
1 paper
NM_001318234.2
p.R62C
c.184C>T
1 paper
NM_001318234.2
p.S64A
c.190T>G
1 paper
NM_001318234.2
p.K101R
c.302A>G
1 paper
NM_001318234.2
p.Y119fs
c.355_356fs
1 paper
NM_001318234.2
p.K138_D139delFs
c.414_415delGG
1 paper
NM_001318234.2
p.Q145R
c.434A>G
1 paper
NM_001318234.2
p.R147Q
c.440G>A
1 paper
NM_001318234.2
p.L207L
c.619C>T
1 paper
NM_001318234.2
p.D293E
c.879T>G
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