Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.N548I

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
Selected Variant
2 papers
NM_001032221.6
p.N548I
c.1643A>T
Surrounding Variants
3 papers
NM_001032221.6
p.N548D
c.1642A>G
1 paper
NM_001032221.6
p.E549K
c.1645G>A
1 paper
NM_001032221.6
p.E549D
c.1647G>C
1 paper
NM_001032221.6
p.E549D
c.1647G>T
3 papers
NM_001032221.6
p.R551S
c.1651C>A
3 papers
NM_001032221.6
p.R551G
c.1651C>G
35 papers
NM_001032221.6
p.R551C
c.1651C>T
13 papers
NM_001032221.6
p.R551H
c.1652G>A
1 paper
NM_001032221.6
p.R551P
c.1652G>C
4 papers
NM_001032221.6
p.R551L
c.1652G>T
15 papers
NM_001032221.6
p.C552R
c.1654T>C
27 papers
NM_001032221.6
p.G544D
c.1631G>A
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