Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.G417Splc

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.G417Splc
c.1249+1G>C
Surrounding Variants
4 papers
NM_001032221.6
p.G417Splc
c.1249+1G>A
3 papers
NM_001032221.6
p.G417Splc
c.1249+1G>T
2 papers
NM_001032221.6
p.G417S
c.1249G>A
3 papers
NM_001032221.6
p.G417R
c.1249G>C
4 papers
NM_001032221.6
p.G417Splc
c.1249+2T>C
1 paper
NM_001032221.6
p.K415E
c.1243A>G
1 paper
NM_001032221.6
p.G417Splc
c.1249+9G>A
1 paper
NM_001032221.6
p.G417Splc
c.1249+9G>C
1 paper
NM_001032221.6
p.G417Splc
c.1249+19G>A
2 papers
NM_001032221.6
p.L410del1
c.1228_1229delCTC
3 papers
NM_001032221.6
p.L409_L410del1
c.1227_1229delTCT
1 paper
NM_001032221.6
p.R406R
c.1218C>A
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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."