Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.P386fs

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.P386fs
c.1156_1157fs
Surrounding Variants
2 papers
NM_001032221.6
p.P386insFs
c.1157dupC
4 papers
NM_001032221.6
p.D385delFs
c.1155delC
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.D385N
c.1153G>A
2 papers
NM_001032221.6
p.D385fs
c.1153_1154fs
2 papers
NM_001032221.6
p.D385fs
c.1153_1154fs
1 paper
NM_001032221.6
p.K384T
c.1151A>C
2 papers
NM_001032221.6
p.R388_A389del2
c.1162_1166del6
24 papers
NM_001032221.6
p.R388*
c.1162C>T
2 papers
NM_001032221.6
p.K384insFs
c.1151dupA
1 paper
NM_001032221.6
p.K382R
c.1145A>G
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