Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.G272delFs

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.G272delFs
c.814delG
Surrounding Variants
1 paper
NM_001032221.6
p.G272V
c.815G>T
1 paper
NM_001032221.6
p.E273*
c.817G>T
1 paper
NM_001032221.6
p.E267A
c.800A>C
1 paper
NM_001032221.6
p.V276insFs
c.827dupT
1 paper
NM_001032221.6
p.E267K
c.799G>A
1 paper
NM_001032221.6
p.Y266*
c.798T>A
1 paper
NM_001032221.6
p.Y266Y
c.798T>C
1 paper
NM_001032221.6
p.Y266*
c.798T>G
1 paper
NM_001032221.6
p.K277fs
c.829_830fs
8 papers
NM_001032221.6
p.K265Splc
c.795-1G>A
2 papers
NM_001032221.6
p.E278K
c.832G>A
1 paper
NM_001032221.6
p.K265Splc
c.795-1G>C
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