Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.Q301Splc

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.Q301Splc
c.902+4A>G
Surrounding Variants
5 papers
NM_001032221.6
p.Q301Splc
c.902+5G>A
8 papers
NM_001032221.6
p.Q301Splc
c.902+1G>A
1 paper
NM_001032221.6
p.Q301Splc
c.902+1G>C
1 paper
NM_001032221.6
p.Q301Splc
c.902+7G>C
2 papers
NM_001032221.6
p.Q301R
c.902A>G
1 paper
NM_001032221.6
p.Q301L
c.902A>T
1 paper
NM_001032221.6
p.Q301Splc
c.902+9C>A
4 papers
NM_001032221.6
p.Q301*
c.901C>T
4 papers
NM_001032221.6
p.Q301fs
c.901_902fs
1 paper
NM_001032221.6
p.Q301Splc
c.902+10C>A
1 paper
NM_001032221.6
p.Q301Splc
c.902+10C>T
1 paper
NM_001032221.6
p.Q301Splc
c.902+11C>G
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