Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.T455M

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.T455M
c.1364C>T
Surrounding Variants
1 paper
NM_001032221.6
p.R457C
c.1369C>T
1 paper
NM_001032221.6
p.D453_S454Splc
c.1360-2A>C
1 paper
NM_001032221.6
p.D453_S454Splc
c.1360-2A>G
1 paper
NM_001032221.6
p.D453_S454Splc
c.1360-2A>T
3 papers
NM_001032221.6
p.K461_R464insFs
c.1381_1390dup10
1 paper
NM_001032221.6
p.R458fs
c.1372_1373fs
1 paper
NM_001032221.6
p.R458C
c.1372C>T
3 papers
NM_001032221.6
p.K461_R464delFs
c.1381_1390del10
1 paper
NM_001032221.6
p.D453_S454Splc
c.1360-10G>A
1 paper
NM_001032221.6
p.K461insFs
c.1381_1382insCA
1 paper
NM_001032221.6
p.K461insFs
c.1381_1382insC
1 paper
NM_001032221.6
p.K461fs
c.1381_1382fs
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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."