Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.L118R

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.L118R
c.353T>G
Surrounding Variants
1 paper
NM_001032221.6
p.L118delins
c.353_354delinsAA
1 paper
NM_001032221.6
p.L118Fs
c.354delinsAAFs
2 papers
NM_001032221.6
p.K120insFs
c.359dupA
1 paper
NM_001032221.6
p.K120R
c.359A>G
1 paper
NM_001032221.6
p.N116_E117insFs
c.348_351dup4
3 papers
NM_001032221.6
p.S121fs
c.361_362fs
1 paper
NM_001032221.6
p.F115S
c.344T>C
19 papers
NM_001032221.6
p.R122*
c.364C>T
2 papers
NM_001032221.6
p.R122Q
c.365G>A
1 paper
NM_001032221.6
p.R122delFs
c.366delA
1 paper
NM_001032221.6
p.A113A
c.339C>A
1 paper
NM_001032221.6
p.A123fs
c.367_368fs
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