Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.L566P

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
2 papers
NM_001032221.6
p.L566P
c.1697T>C
Surrounding Variants
1 paper
NM_001032221.6
p.L566fs
c.1696_1697fs
2 papers
NM_001032221.6
p.L566Fs
c.1696_1697delinsAFs
1 paper
NM_001032221.6
p.I567insFs
c.1699dupA
1 paper
NM_001032221.6
p.I567fs
c.1699_1700fs
3 papers
NM_001032221.6
p.G568R
c.1702G>A
1 paper
NM_001032221.6
p.G568R
c.1702G>C
7 papers
NM_001032221.6
p.G568Splc
c.1702+1G>A
3 papers
NM_001032221.6
p.G568Splc
c.1702+1G>C
1 paper
NM_001032221.6
p.G568Splc
c.1702+6T>C
1 paper
NM_001032221.6
p.K562_G568delFs
c.1686_1702del17
1 paper
NM_001032221.6
p.G568Splc
c.1702+7G>C
1 paper
NM_001032221.6
p.K562fs
c.1684_1685fs
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