Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.D238N

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.D238N
c.712G>A
Surrounding Variants
1 paper
NM_001032221.6
p.D238H
c.712G>C
1 paper
NM_001032221.6
p.D238fs
c.712_713fs
5 papers
NM_001032221.6
p.D238Fs
c.713_714delinsAFs
2 papers
NM_001032221.6
p.D238E
c.714C>A
2 papers
NM_001032221.6
p.D238E
c.714C>G
1 paper
NM_001032221.6
p.P239fs
c.715_716fs
1 paper
NM_001032221.6
p.P239S
c.715C>T
1 paper
NM_001032221.6
p.S240insFs
c.718dupA
2 papers
NM_001032221.6
p.G236D
c.707G>A
1 paper
NM_001032221.6
p.S240fs
c.718_719fs
1 paper
NM_001032221.6
p.S240fs
c.718_719fs
2 papers
NM_001032221.6
p.S241delFs
c.721delT
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