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

2 papers

NM_001127715.4

p.S810delFs

c.2430delC

Surrounding Variants

1 paper

NM_001127715.4

p.P811fs

c.2431_2432fs

1 paper

NM_001127715.4

p.L815L

c.2445A>G

1 paper

NM_001127715.4

p.S795S

c.2385C>T

2 papers

NM_001127715.4

p.S795C

c.2384C>G

1 paper

NM_001127715.4

p.E880*

c.2638G>T

1 paper

NM_001127715.4

p.R896W

c.2686C>T

1 paper

NM_001127715.4

p.V916L

c.2746G>C

1 paper

NM_001127715.4

p.V916L

c.2746G>T

1 paper

NM_001127715.4

p.L928L

c.2784G>A

1 paper

NM_001127715.4

p.F962S

c.2885T>C

1 paper

NM_001127715.4

p.H967fs

c.2899_2900fs

1 paper

NM_001127715.4

p.A1004T

c.3010G>A