Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1

STXBP1

719 papers

RefSeq Summary

This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutati...

Pfam Domains

Sec1aa 15–567UCSCSec1 family

Gene Aliases

HGNC Name

syntaxin binding protein 1

HGNC Alias Symbols

hUNC18; MUNC18-1; UNC18; rbSec1; nSec1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 1161 variants
44 papers
NM_001032221.6
p.R292H
c.875G>A
44 papers
NM_001032221.6
p.R406H
c.1217G>A
35 papers
NM_001032221.6
p.R551C
c.1651C>T
33 papers
NM_001032221.6
p.R406C
c.1216C>T
32 papers
NM_001032221.6
p.P480L
c.1439C>T
27 papers
NM_001032221.6
p.R235*
c.703C>T
27 papers
NM_001032221.6
p.R292C
c.874C>T
27 papers
NM_001032221.6
p.G544D
c.1631G>A
26 papers
NM_001032221.6
p.C180Y
c.539G>A
26 papers
NM_001032221.6
p.R367*
c.1099C>T
24 papers
NM_001032221.6
p.R388*
c.1162C>T
23 papers
NM_001032221.6
p.P139L
c.416C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."