Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.L183R

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
6 papers
NM_001032221.6
p.L183R
c.548T>G
Surrounding Variants
3 papers
NM_001032221.6
p.L183P
c.548T>C
2 papers
NM_001032221.6
p.K184delFs
c.551delA
1 paper
NM_001032221.6
p.K184*
c.550A>T
1 paper
NM_001032221.6
p.K184fs
c.550_551fs
1 paper
NM_001032221.6
p.K184_R192delFs
c.552_574del23
3 papers
NM_001032221.6
p.K184_E185insFs
c.552_553ins4
1 paper
NM_001032221.6
p.E185fs
c.553_554fs
1 paper
NM_001032221.6
p.E185_P187del0
c.554_559del6
1 paper
NM_001032221.6
p.E185_P187Fs
c.554_559delinsTGTGFs
1 paper
NM_001032221.6
p.C180W
c.540T>G
2 papers
NM_001032221.6
p.P187delFs
c.560delC
26 papers
NM_001032221.6
p.C180Y
c.539G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."