Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.V243G

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.V243G
c.728T>G
Surrounding Variants
1 paper
NM_001032221.6
p.L244R
c.731T>G
3 papers
NM_001032221.6
p.P242S
c.724C>T
1 paper
NM_001032221.6
p.P242fs
c.724_725fs
3 papers
NM_001032221.6
p.H245N
c.733C>A
4 papers
NM_001032221.6
p.H245D
c.733C>G
4 papers
NM_001032221.6
p.H245P
c.734A>C
8 papers
NM_001032221.6
p.H245R
c.734A>G
1 paper
NM_001032221.6
p.S241Y
c.722C>A
1 paper
NM_001032221.6
p.H245Q
c.735T>A
2 papers
NM_001032221.6
p.S241A
c.721T>G
1 paper
NM_001032221.6
p.H245Q
c.735T>G
1 paper
NM_001032221.6
p.S241fs
c.721_722fs
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