Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.V263I

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.V263I
c.787G>A
Surrounding Variants
1 paper
NM_001032221.6
p.V263A
c.788T>C
2 papers
NM_001032221.6
p.D262A
c.785A>C
3 papers
NM_001032221.6
p.D262V
c.785A>T
1 paper
NM_001032221.6
p.D262Y
c.784G>T
1 paper
NM_001032221.6
p.E260A
c.779A>C
2 papers
NM_001032221.6
p.K265Splc
c.794+1G>A
3 papers
NM_001032221.6
p.K265Splc
c.794+1G>T
5 papers
NM_001032221.6
p.E260*
c.778G>T
1 paper
NM_001032221.6
p.I259T
c.776T>C
1 paper
NM_001032221.6
p.I259delFs
c.777delC
5 papers
NM_001032221.6
p.K265Splc
c.794+5G>A
1 paper
NM_001032221.6
p.P258fs
c.772_773fs
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