Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.I289insFs

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
4 papers
NM_001032221.6
p.I289insFs
c.867dupA
Surrounding Variants
1 paper
NM_001032221.6
p.I289V
c.865A>G
3 papers
NM_001032221.6
p.W288*
c.864G>A
2 papers
NM_001032221.6
p.A290fs
c.868_869fs
3 papers
NM_001032221.6
p.W288*
c.863G>A
1 paper
NM_001032221.6
p.W288R
c.862T>A
1 paper
NM_001032221.6
p.W288R
c.862T>C
2 papers
NM_001032221.6
p.L291P
c.872T>C
1 paper
NM_001032221.6
p.L287P
c.860T>C
2 papers
NM_001032221.6
p.R292S
c.874C>A
27 papers
NM_001032221.6
p.R292C
c.874C>T
1 paper
NM_001032221.6
p.D286insFs
c.858dupC
44 papers
NM_001032221.6
p.R292H
c.875G>A
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