Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.S146delFs

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.S146delFs
c.437_438delCC
Surrounding Variants
1 paper
NM_001032221.6
p.S146insFs
c.437dupC
2 papers
NM_001032221.6
p.S146fs
c.436_437fs
3 papers
NM_001032221.6
p.S146Fs
c.437_438delinsCFs
2 papers
NM_001032221.6
p.S146F
c.437C>T
1 paper
NM_001032221.6
p.Y145C
c.434A>G
2 papers
NM_001032221.6
p.Y145F
c.434A>T
2 papers
NM_001032221.6
p.Y145H
c.433T>C
1 paper
NM_001032221.6
p.L147fs
c.439_440fs
1 paper
NM_001032221.6
p.D148_S149delFs
c.442_446del5
1 paper
NM_001032221.6
p.Y145_D148del4
c.433_443del12
1 paper
NM_001032221.6
p.V144I
c.430G>A
1 paper
NM_001032221.6
p.V144L
c.430G>C
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