Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.Q154insFs

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.Q154insFs
c.460dupC
Surrounding Variants
1 paper
NM_001032221.6
p.F153S
c.458T>C
1 paper
NM_001032221.6
p.F153_P159insFs
c.459_477dup19
2 papers
NM_001032221.6
p.S152C
c.455C>G
1 paper
NM_001032221.6
p.S155delFs
c.464delG
1 paper
NM_001032221.6
p.S155fs
c.463_464fs
1 paper
NM_001032221.6
p.D151E
c.453C>A
1 paper
NM_001032221.6
p.D151E
c.453C>G
1 paper
NM_001032221.6
p.F156I
c.466T>A
1 paper
NM_001032221.6
p.A150S
c.448G>T
1 paper
NM_001032221.6
p.A150delFs
c.449delC
1 paper
NM_001032221.6
p.S149_A150delFs
c.447_448delTG
1 paper
NM_001032221.6
p.S149fs
c.445_446fs
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