Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.R190G

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
1 paper
NM_001032221.6
p.R190G
c.568C>G
Surrounding Variants
14 papers
NM_001032221.6
p.R190W
c.568C>T
10 papers
NM_001032221.6
p.R190Q
c.569G>A
1 paper
NM_001032221.6
p.A188V
c.563C>T
1 paper
NM_001032221.6
p.R192ins2
c.574_575ins6
2 papers
NM_001032221.6
p.R192Q
c.575G>A
1 paper
NM_001032221.6
p.P187R
c.560C>G
6 papers
NM_001032221.6
p.P187L
c.560C>T
1 paper
NM_001032221.6
p.P187fs
c.559_560fs
1 paper
NM_001032221.6
p.G193A
c.578G>C
1 paper
NM_001032221.6
p.G193V
c.578G>T
2 papers
NM_001032221.6
p.P187delFs
c.560delC
5 papers
NM_001032221.6
p.G193Splc
c.578+1G>A
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