Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.L130L

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.L130L
c.388C>T
Surrounding Variants
2 papers
NM_001032221.6
p.L130fs
c.388_389fs
1 paper
NM_001032221.6
p.L130delFs
c.389delT
1 paper
NM_001032221.6
p.L130fs
c.388_389fs
1 paper
NM_001032221.6
p.L130P
c.389T>C
3 papers
NM_001032221.6
p.T129P
c.385A>C
9 papers
NM_001032221.6
p.L130delFs
c.388_389delCT
1 paper
NM_001032221.6
p.T131M
c.392C>T
1 paper
NM_001032221.6
p.K128E
c.382A>G
2 papers
NM_001032221.6
p.E132K
c.394G>A
4 papers
NM_001032221.6
p.E132A
c.395A>C
2 papers
NM_001032221.6
p.I133V
c.397A>G
1 paper
NM_001032221.6
p.I127F
c.379A>T
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