Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.A553P

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.A553P
c.1657G>C
Surrounding Variants
1 paper
NM_001032221.6
p.A553T
c.1657G>A
4 papers
NM_001032221.6
p.A553delFs
c.1658delC
2 papers
NM_001032221.6
p.C552*
c.1656C>A
1 paper
NM_001032221.6
p.Y554_A559del6
c.1660_1676del18
1 paper
NM_001032221.6
p.C552Y
c.1655G>A
15 papers
NM_001032221.6
p.C552R
c.1654T>C
3 papers
NM_001032221.6
p.Y554fs
c.1660_1661fs
2 papers
NM_001032221.6
p.Y554C
c.1661A>G
13 papers
NM_001032221.6
p.R551H
c.1652G>A
1 paper
NM_001032221.6
p.R551P
c.1652G>C
4 papers
NM_001032221.6
p.R551L
c.1652G>T
3 papers
NM_001032221.6
p.R551S
c.1651C>A
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