Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.K404E

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.K404E
c.1210A>G
Surrounding Variants
1 paper
NM_001032221.6
p.K404N
c.1212A>C
1 paper
NM_001032221.6
p.K404N
c.1212A>T
1 paper
NM_001032221.6
p.I405_L409del5
c.1213_1226del15
9 papers
NM_001032221.6
p.Y402*
c.1206T>A
8 papers
NM_001032221.6
p.Y402*
c.1206T>G
1 paper
NM_001032221.6
p.Y402_D403insFs
c.1206_1207insG
1 paper
NM_001032221.6
p.Y402insFs
c.1205_1206insG
6 papers
NM_001032221.6
p.Y402delFs
c.1206delT
2 papers
NM_001032221.6
p.R406S
c.1216C>A
2 papers
NM_001032221.6
p.R406G
c.1216C>G
33 papers
NM_001032221.6
p.R406C
c.1216C>T
1 paper
NM_001032221.6
p.Y402H
c.1204T>C
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