Varaico: Literature-Extracted Genetic Variants

Gene:SNPH
Variant:p.G433V

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.G433V
c.1298G>T
Surrounding Variants
1 paper
NM_001318234.2
p.R431W
c.1291C>T
1 paper
NM_001318234.2
p.G414_D415del2
c.1240_1244del6
1 paper
NM_001318234.2
p.V471M
c.1411G>A
1 paper
NM_001318234.2
p.L373P
c.1118T>C
1 paper
NM_001318234.2
p.Y337C
c.1010A>G
1 paper
NM_001318234.2
p.A532E
c.1595C>A
1 paper
NM_001318234.2
p.S334_N335ins0
c.1001_1003dupGCA
1 paper
NM_001318234.2
p.G534S
c.1600G>A
1 paper
NM_001318234.2
p.S536C
c.1607C>G
1 paper
NM_001318234.2
p.D293E
c.879T>G
1 paper
NM_001318234.2
p.L207L
c.619C>T
1 paper
NM_001318234.2
p.R147Q
c.440G>A
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