Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.V391delFs

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.V391delFs
c.1171_1172delGT
Surrounding Variants
1 paper
NM_001032221.6
p.V391fs
c.1171_1172fs
1 paper
NM_001032221.6
p.I390_V391delFs
c.1169_1173del5
1 paper
NM_001032221.6
p.A389A
c.1167C>A
24 papers
NM_001032221.6
p.R388*
c.1162C>T
2 papers
NM_001032221.6
p.R388_A389del2
c.1162_1166del6
1 paper
NM_001032221.6
p.L394fs
c.1180_1181fs
1 paper
NM_001032221.6
p.M387V
c.1159A>G
2 papers
NM_001032221.6
p.M387fs
c.1159_1160fs
1 paper
NM_001032221.6
p.L395L
c.1183C>T
1 paper
NM_001032221.6
p.P386fs
c.1156_1157fs
2 papers
NM_001032221.6
p.P386insFs
c.1157dupC
4 papers
NM_001032221.6
p.D385delFs
c.1155delC
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."