Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.V299_S300delFs

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
4 papers
NM_001032221.6
p.V299_S300delFs
c.897_898delGT
Surrounding Variants
1 paper
NM_001032221.6
p.E298D
c.894G>C
1 paper
NM_001032221.6
p.E298D
c.894G>T
2 papers
NM_001032221.6
p.V299fs
c.895_896fs
1 paper
NM_001032221.6
p.E298fs
c.892_893fs
4 papers
NM_001032221.6
p.E298delFs
c.893_894delAG
3 papers
NM_001032221.6
p.Q301delFs
c.901delC
5 papers
NM_001032221.6
p.A297T
c.889G>A
4 papers
NM_001032221.6
p.Q301*
c.901C>T
4 papers
NM_001032221.6
p.Q301fs
c.901_902fs
2 papers
NM_001032221.6
p.Q301R
c.902A>G
1 paper
NM_001032221.6
p.Q301L
c.902A>T
8 papers
NM_001032221.6
p.Q301Splc
c.902+1G>A
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