Varaico: Literature-Extracted Genetic Variants

Gene:STX1A
Variant:p.S200R

STX1A

200 papers

RefSeq Summary

This gene encodes a member of the syntaxin superfamily. Syntaxins are nervous system-specific proteins implicated in the docking of synaptic vesicles with the presynaptic plasma membrane. Syntaxins po...

Pfam Domains

Syntaxinaa 27–181UCSCSyntaxin
SNAREaa 228–280UCSCSNARE domain

Gene Aliases

HGNC Name

syntaxin 1A

HGNC Alias Symbols

HPC-1; p35-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004603.4
p.S200R
c.598A>C
Surrounding Variants
1 paper
NM_004603.4
p.S200R
c.600T>G
1 paper
NM_004603.4
p.S200R
c.600T>A
1 paper
NM_004603.4
p.T197A
c.589A>G
1 paper
NM_004603.4
p.K204R
c.611A>G
1 paper
NM_004603.4
p.S193C
c.577A>T
2 papers
NM_004603.4
p.L192L
c.576G>A
1 paper
NM_004603.4
p.N207S
c.620A>G
1 paper
NM_004603.4
p.R210H
c.629G>A
1 paper
NM_004603.4
p.S188A
c.562T>G
4 papers
NM_004603.4
p.S186C
c.556A>T
1 paper
NM_004603.4
p.S185C
c.554C>G
1 paper
NM_004603.4
p.F216L
c.646T>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."