Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.E369*

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
3 papers
NM_001032221.6
p.E369*
c.1105G>T
Surrounding Variants
2 papers
NM_001032221.6
p.E369K
c.1105G>A
1 paper
NM_001032221.6
p.E369Q
c.1105G>C
1 paper
NM_001032221.6
p.E369G
c.1106A>G
1 paper
NM_001032221.6
p.V368A
c.1103T>C
1 paper
NM_001032221.6
p.V368insFs
c.1102_1103insC
1 paper
NM_001032221.6
p.R367Q
c.1100G>A
1 paper
NM_001032221.6
p.Q370Q
c.1110G>A
26 papers
NM_001032221.6
p.R367*
c.1099C>T
2 papers
NM_001032221.6
p.Q370_D371Splc
c.1110+1G>A
1 paper
NM_001032221.6
p.Q370_D371Splc
c.1110+2T>G
1 paper
NM_001032221.6
p.Q370_D371Splc
c.1110+3A>C
2 papers
NM_001032221.6
p.C366fs
c.1096_1097fs
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