Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.L281P

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
3 papers
NM_001032221.6
p.L281P
c.842T>C
Surrounding Variants
16 papers
NM_001032221.6
p.E283K
c.847G>A
1 paper
NM_001032221.6
p.L280_E283del4
c.838_848del12
1 paper
NM_001032221.6
p.D284E
c.852C>G
2 papers
NM_001032221.6
p.E278K
c.832G>A
5 papers
NM_001032221.6
p.D285Y
c.853G>T
1 paper
NM_001032221.6
p.K277fs
c.829_830fs
1 paper
NM_001032221.6
p.D285E
c.855C>A
1 paper
NM_001032221.6
p.D285E
c.855C>G
1 paper
NM_001032221.6
p.D286insFs
c.858dupC
1 paper
NM_001032221.6
p.V276insFs
c.827dupT
1 paper
NM_001032221.6
p.L287P
c.860T>C
1 paper
NM_001032221.6
p.W288R
c.862T>A
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