Varaico: Literature-Extracted Genetic Variants

Gene:STXBP5
Variant:p.S19S

STXBP5

94 papers

RefSeq Summary

Syntaxin 1 is a component of the 7S and 20S SNARE complexes which are involved in docking and fusion of synaptic vesicles with the presynaptic plasma membrane. This gene encodes a syntaxin 1 binding p...

Pfam Domains

WD40aa 231–265UCSCWD domain, G-beta repeat
LLGLaa 275–384UCSCLLGL2
Lgl_Caa 899–1061UCSCLethal giant larvae(Lgl) like, C-terminal

Gene Aliases

HGNC Name

syntaxin binding protein 5

HGNC Alias Symbols

tomosyn; LLGL3; tomosyn-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001127715.4
p.S19S
c.57G>A
Surrounding Variants
1 paper
NM_001127715.4
p.M1delFs
c.2delT
1 paper
NM_001127715.4
p.L83V
c.247C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."