Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.E487_D488Splc

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.E487_D488Splc
c.1461+1G>A
Surrounding Variants
1 paper
NM_001032221.6
p.E487_D488Splc
c.1461+1G>T
2 papers
NM_001032221.6
p.E487E
c.1461G>A
5 papers
NM_001032221.6
p.E487D
c.1461G>C
5 papers
NM_001032221.6
p.E487D
c.1461G>T
2 papers
NM_001032221.6
p.E487_D488Splc
c.1461+5G>A
2 papers
NM_001032221.6
p.M486R
c.1457T>G
1 paper
NM_001032221.6
p.I485N
c.1454T>A
1 paper
NM_001032221.6
p.E487_D488Splc
c.1461+10G>A
1 paper
NM_001032221.6
p.E487_D488Splc
c.1461+12G>A
2 papers
NM_001032221.6
p.D484H
c.1450G>C
2 papers
NM_001032221.6
p.K483M
c.1448A>T
1 paper
NM_001032221.6
p.K483_M486del0
c.1448_1456del9
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."