Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.I127F

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.I127F
c.379A>T
Surrounding Variants
1 paper
NM_001032221.6
p.K128E
c.382A>G
3 papers
NM_001032221.6
p.T129P
c.385A>C
1 paper
NM_001032221.6
p.K125E
c.373A>G
1 paper
NM_001032221.6
p.K125fs
c.373_374fs
9 papers
NM_001032221.6
p.L130delFs
c.388_389delCT
1 paper
NM_001032221.6
p.K125delFs
c.374_375delAA
1 paper
NM_001032221.6
p.A124V
c.371C>T
1 paper
NM_001032221.6
p.K125_I127del3
c.373_380del9
2 papers
NM_001032221.6
p.L130fs
c.388_389fs
3 papers
NM_001032221.6
p.L130L
c.388C>T
1 paper
NM_001032221.6
p.L130delFs
c.389delT
1 paper
NM_001032221.6
p.L130fs
c.388_389fs
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