Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.D371fs

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.D371fs
c.1111_1112fs
Surrounding Variants
3 papers
NM_001032221.6
p.Q370_D371Splc
c.1111-2A>G
1 paper
NM_001032221.6
p.M374_G375del2
c.1120_1124del6
1 paper
NM_001032221.6
p.Q370_D371Splc
c.1111-8T>C
1 paper
NM_001032221.6
p.D377_E379del0
c.1130_1135del6
3 papers
NM_001032221.6
p.D377insFs
c.1130dupA
1 paper
NM_001032221.6
p.D377Y
c.1129G>T
1 paper
NM_001032221.6
p.D377fs
c.1129_1130fs
1 paper
NM_001032221.6
p.E379K
c.1135G>A
1 paper
NM_001032221.6
p.K382R
c.1145A>G
2 papers
NM_001032221.6
p.K384insFs
c.1151dupA
1 paper
NM_001032221.6
p.K384T
c.1151A>C
1 paper
NM_001032221.6
p.D385N
c.1153G>A
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