Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.C180Y

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
26 papers
NM_001032221.6
p.C180Y
c.539G>A
Surrounding Variants
4 papers
NM_001032221.6
p.C180R
c.538T>C
1 paper
NM_001032221.6
p.C180W
c.540T>G
1 paper
NM_001032221.6
p.C180delFs
c.538_539delTG
2 papers
NM_001032221.6
p.L179R
c.536T>G
6 papers
NM_001032221.6
p.T178I
c.533C>T
1 paper
NM_001032221.6
p.T178delFs
c.533delC
3 papers
NM_001032221.6
p.A177V
c.530C>T
3 papers
NM_001032221.6
p.L183P
c.548T>C
6 papers
NM_001032221.6
p.L183R
c.548T>G
1 paper
NM_001032221.6
p.A177T
c.529G>A
1 paper
NM_001032221.6
p.A177P
c.529G>C
2 papers
NM_001032221.6
p.K184delFs
c.551delA
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