Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.P480L

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
32 papers
NM_001032221.6
p.P480L
c.1439C>T
Surrounding Variants
4 papers
NM_001032221.6
p.P480S
c.1438C>T
1 paper
NM_001032221.6
p.T479A
c.1435A>G
1 paper
NM_001032221.6
p.K483_M486del0
c.1448_1456del9
10 papers
NM_001032221.6
p.W478*
c.1434G>A
10 papers
NM_001032221.6
p.W478*
c.1433G>A
2 papers
NM_001032221.6
p.K483M
c.1448A>T
2 papers
NM_001032221.6
p.D484H
c.1450G>C
1 paper
NM_001032221.6
p.S476*
c.1427C>A
1 paper
NM_001032221.6
p.S476*
c.1427C>G
1 paper
NM_001032221.6
p.I485N
c.1454T>A
2 papers
NM_001032221.6
p.M486R
c.1457T>G
2 papers
NM_001032221.6
p.Q474*
c.1420C>T
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