Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.A226V

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.A226V
c.677C>T
Surrounding Variants
1 paper
NM_001032221.6
p.A226T
c.676G>A
1 paper
NM_001032221.6
p.R227S
c.679C>A
1 paper
NM_001032221.6
p.K225K
c.675G>A
1 paper
NM_001032221.6
p.S228_Q229del2
c.682_686del6
1 paper
NM_001032221.6
p.D224_K225insC
c.670_674ins3
1 paper
NM_001032221.6
p.Q229*
c.685C>T
2 papers
NM_001032221.6
p.Q229L
c.686A>T
1 paper
NM_001032221.6
p.P223_D224del1
c.668_670delCAG
1 paper
NM_001032221.6
p.L230F
c.688C>T
1 paper
NM_001032221.6
p.L231L
c.691C>T
1 paper
NM_001032221.6
p.L231_I232del1
c.693_695delGAT
1 paper
NM_001032221.6
p.E221_G222Splc
c.664-1G>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."