Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.A251P

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
2 papers
NM_001032221.6
p.A251P
c.751G>C
Surrounding Variants
7 papers
NM_001032221.6
p.A251T
c.751G>A
1 paper
NM_001032221.6
p.A251_M252del1
c.752_754delCTA
2 papers
NM_001032221.6
p.M252delFs
c.754_755delAT
2 papers
NM_001032221.6
p.Q250R
c.749A>G
1 paper
NM_001032221.6
p.M252fs
c.754_755fs
1 paper
NM_001032221.6
p.Q250E
c.748C>G
5 papers
NM_001032221.6
p.Q250*
c.748C>T
1 paper
NM_001032221.6
p.Q250fs
c.748_749fs
7 papers
NM_001032221.6
p.M252T
c.755T>C
1 paper
NM_001032221.6
p.F249fs
c.745_746fs
1 paper
NM_001032221.6
p.S253N
c.758G>A
5 papers
NM_001032221.6
p.F249insFs
c.747dupT
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