Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.S241fs

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.S241fs
c.721_722fs
Surrounding Variants
2 papers
NM_001032221.6
p.S241A
c.721T>G
1 paper
NM_001032221.6
p.P242delFs
c.725delC
1 paper
NM_001032221.6
p.S241fs
c.721_722fs
1 paper
NM_001032221.6
p.S241_P242del1
c.722_724delCCC
1 paper
NM_001032221.6
p.S241Y
c.722C>A
2 papers
NM_001032221.6
p.S241delFs
c.721delT
1 paper
NM_001032221.6
p.S240fs
c.718_719fs
1 paper
NM_001032221.6
p.S240fs
c.718_719fs
3 papers
NM_001032221.6
p.P242S
c.724C>T
1 paper
NM_001032221.6
p.P242fs
c.724_725fs
1 paper
NM_001032221.6
p.S240insFs
c.718dupA
1 paper
NM_001032221.6
p.P239fs
c.715_716fs
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