Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.W522*

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
3 papers
NM_001032221.6
p.W522*
c.1566G>A
Surrounding Variants
1 paper
NM_001032221.6
p.H523fs
c.1567_1568fs
1 paper
NM_001032221.6
p.H523_K524delFs
c.1569_1570delTA
3 papers
NM_001032221.6
p.W522*
c.1565G>A
1 paper
NM_001032221.6
p.H521L
c.1562A>T
1 paper
NM_001032221.6
p.N525delFs
c.1574delA
1 paper
NM_001032221.6
p.N525fs
c.1573_1574fs
2 papers
NM_001032221.6
p.Y519*
c.1557T>A
2 papers
NM_001032221.6
p.Y519*
c.1557T>G
1 paper
NM_001032221.6
p.K526fs
c.1576_1577fs
1 paper
NM_001032221.6
p.K526fs
c.1576_1577fs
1 paper
NM_001032221.6
p.K526_A527delFs
c.1578_1579delGG
2 papers
NM_001032221.6
p.A527fs
c.1579_1580fs
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