Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.Y254H

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.Y254H
c.760T>C
Surrounding Variants
1 paper
NM_001032221.6
p.Y254fs
c.760_761fs
1 paper
NM_001032221.6
p.S253N
c.758G>A
1 paper
NM_001032221.6
p.D255N
c.763G>A
1 paper
NM_001032221.6
p.D255A
c.764A>C
7 papers
NM_001032221.6
p.M252T
c.755T>C
2 papers
NM_001032221.6
p.L256_L257ins0
c.767_769dupTGC
1 paper
NM_001032221.6
p.L257del1
c.769_770delCTG
1 paper
NM_001032221.6
p.M252fs
c.754_755fs
5 papers
NM_001032221.6
p.L256P
c.767T>C
2 papers
NM_001032221.6
p.M252delFs
c.754_755delAT
7 papers
NM_001032221.6
p.A251T
c.751G>A
2 papers
NM_001032221.6
p.A251P
c.751G>C
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