Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.A173E

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.A173E
c.518C>A
Surrounding Variants
3 papers
NM_001032221.6
p.A173T
c.517G>A
1 paper
NM_001032221.6
p.L172L
c.516G>C
1 paper
NM_001032221.6
p.E174_Q175insT
c.520_524ins3
1 paper
NM_001032221.6
p.L172L
c.514C>T
1 paper
NM_001032221.6
p.Q175_I176ins15
c.523_527ins45
4 papers
NM_001032221.6
p.R171H
c.512G>A
1 paper
NM_001032221.6
p.R171L
c.512G>T
1 paper
NM_001032221.6
p.R171C
c.511C>T
1 paper
NM_001032221.6
p.A177T
c.529G>A
1 paper
NM_001032221.6
p.A177P
c.529G>C
3 papers
NM_001032221.6
p.A177V
c.530C>T
1 paper
NM_001032221.6
p.L169insFs
c.506dupT
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