Varaico: Literature-Extracted Genetic Variants

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.L124F

c.372A>T

Surrounding Variants

1 paper

NM_001127715.4

p.L124F

c.372A>C

1 paper

NM_001127715.4

p.E143*

c.427G>T

1 paper

NM_001127715.4

p.G85R

c.253G>C