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

1–12 of 64 variants

13 papers

NM_001127715.4

p.N436S

c.1307A>G

9 papers

NM_001127715.4

p.Y502C

c.1505A>G

7 papers

NM_001127715.4

p.L412V

c.1234C>G

3 papers

NM_001127715.4

p.S759C

c.2275A>T

2 papers

NM_001127715.4

p.N436D

c.1306A>G

2 papers

NM_001127715.4

p.S795C

c.2384C>G

2 papers

NM_001127715.4

p.S810delFs

c.2430delC

2 papers

NM_001127715.4

p.A1042V

c.3125C>T

1 paper

NM_001127715.4

p.M1delFs

c.2delT

1 paper

NM_001127715.4

p.S19S

c.57G>A

1 paper

NM_001127715.4

p.L83V

c.247C>G

1 paper

NM_001127715.4

p.G85R

c.253G>C