Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.N398K

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.N398K
c.1194T>G
Surrounding Variants
1 paper
NM_001032221.6
p.N398K
c.1194T>A
3 papers
NM_001032221.6
p.N398S
c.1193A>G
1 paper
NM_001032221.6
p.V399V
c.1197C>A
1 paper
NM_001032221.6
p.A397_N398insFs
c.1191_1192insG
1 paper
NM_001032221.6
p.Y402H
c.1204T>C
1 paper
NM_001032221.6
p.Y402insFs
c.1205_1206insG
6 papers
NM_001032221.6
p.Y402delFs
c.1206delT
1 paper
NM_001032221.6
p.L395L
c.1183C>T
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.L394fs
c.1180_1181fs
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