Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.N134fs

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.N134fs
c.400_401fs
Surrounding Variants
1 paper
NM_001032221.6
p.N134insFs
c.401dupA
1 paper
NM_001032221.6
p.I135_F137delFs
c.405_409del5
2 papers
NM_001032221.6
p.I133V
c.397A>G
4 papers
NM_001032221.6
p.E132A
c.395A>C
2 papers
NM_001032221.6
p.E132K
c.394G>A
1 paper
NM_001032221.6
p.F137insFs
c.411dupT
3 papers
NM_001032221.6
p.A136A
c.408A>T
1 paper
NM_001032221.6
p.T131M
c.392C>T
1 paper
NM_001032221.6
p.F137I
c.409T>A
1 paper
NM_001032221.6
p.L130P
c.389T>C
2 papers
NM_001032221.6
p.L130fs
c.388_389fs
1 paper
NM_001032221.6
p.L138insFs
c.412_413insT
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