Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.E463*

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
4 papers
NM_001032221.6
p.E463*
c.1387G>T
Surrounding Variants
1 paper
NM_001032221.6
p.P462L
c.1385C>T
1 paper
NM_001032221.6
p.R464fs
c.1390_1391fs
1 paper
NM_001032221.6
p.K461insFs
c.1381_1382insC
1 paper
NM_001032221.6
p.K461fs
c.1381_1382fs
1 paper
NM_001032221.6
p.K461fs
c.1381_1382fs
1 paper
NM_001032221.6
p.K461insFs
c.1381_1382insCA
4 papers
NM_001032221.6
p.E466K
c.1396G>A
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.R457C
c.1369C>T
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