Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.I538_I539del2

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.I538_I539del2
c.1612_1616del6
Surrounding Variants
2 papers
NM_001032221.6
p.L537P
c.1610T>C
3 papers
NM_001032221.6
p.L537_I538del1
c.1611_1613delCAT
3 papers
NM_001032221.6
p.I539del1
c.1615_1616delATT
8 papers
NM_001032221.6
p.R536H
c.1607G>A
1 paper
NM_001032221.6
p.R536fs
c.1606_1607fs
1 paper
NM_001032221.6
p.G534A
c.1601G>C
2 papers
NM_001032221.6
p.R536delFs
c.1606delC
1 paper
NM_001032221.6
p.L542F
c.1624C>T
1 paper
NM_001032221.6
p.S533T
c.1598G>C
1 paper
NM_001032221.6
p.G544delFs
c.1631delG
3 papers
NM_001032221.6
p.G543R
c.1627G>A
3 papers
NM_001032221.6
p.G543R
c.1627G>C
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