Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.D353_C354delFs

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.D353_C354delFs
c.1057_1060del4
Surrounding Variants
2 papers
NM_001032221.6
p.E352delFs
c.1056delG
1 paper
NM_001032221.6
p.D353fs
c.1057_1058fs
1 paper
NM_001032221.6
p.D353fs
c.1057_1058fs
1 paper
NM_001032221.6
p.E352K
c.1054G>A
1 paper
NM_001032221.6
p.D353E
c.1059C>A
1 paper
NM_001032221.6
p.D353E
c.1059C>G
8 papers
NM_001032221.6
p.C354R
c.1060T>C
9 papers
NM_001032221.6
p.C354Y
c.1061G>A
1 paper
NM_001032221.6
p.K356M
c.1067A>T
10 papers
NM_001032221.6
p.L348R
c.1043T>G
1 paper
NM_001032221.6
p.Y358*
c.1074C>A
1 paper
NM_001032221.6
p.Y358*
c.1074C>G
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