Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.R235L

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.R235L
c.704G>T
Surrounding Variants
19 papers
NM_001032221.6
p.R235Q
c.704G>A
1 paper
NM_001032221.6
p.R235P
c.704G>C
11 papers
NM_001032221.6
p.R235G
c.703C>G
27 papers
NM_001032221.6
p.R235*
c.703C>T
3 papers
NM_001032221.6
p.D234G
c.701A>G
2 papers
NM_001032221.6
p.G236D
c.707G>A
2 papers
NM_001032221.6
p.D234Y
c.700G>T
2 papers
NM_001032221.6
p.D238N
c.712G>A
1 paper
NM_001032221.6
p.D238H
c.712G>C
1 paper
NM_001032221.6
p.D238fs
c.712_713fs
5 papers
NM_001032221.6
p.D238Fs
c.713_714delinsAFs
2 papers
NM_001032221.6
p.I232fs
c.694_695fs
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