Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.P139L

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
23 papers
NM_001032221.6
p.P139L
c.416C>T
Surrounding Variants
3 papers
NM_001032221.6
p.P139Q
c.416C>A
1 paper
NM_001032221.6
p.P139T
c.415C>A
1 paper
NM_001032221.6
p.Y140C
c.419A>G
1 paper
NM_001032221.6
p.L138_Y140del0
c.414_419del6
1 paper
NM_001032221.6
p.L138insFs
c.412_413insT
1 paper
NM_001032221.6
p.L138V
c.412C>G
1 paper
NM_001032221.6
p.L138F
c.412C>T
2 papers
NM_001032221.6
p.Y140*
c.420T>A
2 papers
NM_001032221.6
p.Y140*
c.420T>G
1 paper
NM_001032221.6
p.S142_Q143delFs
c.424_427del4
1 paper
NM_001032221.6
p.F137I
c.409T>A
1 paper
NM_001032221.6
p.F137insFs
c.411dupT
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