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.P568P

c.1704C>A

Surrounding Variants

1 paper

NM_001127715.4

p.P568L

c.1703C>T

1 paper

NM_001127715.4

p.T567A

c.1699A>G

1 paper

NM_001127715.4

p.P574_P576del3

c.1720_1727del9

1 paper

NM_001127715.4

p.P557L

c.1670C>T

1 paper

NM_001127715.4

p.E538K

c.1612G>A

9 papers

NM_001127715.4

p.Y502C

c.1505A>G

1 paper

NM_001127715.4

p.E483V

c.1448A>T

1 paper

NM_001127715.4

p.E483Q

c.1447G>C

13 papers

NM_001127715.4

p.N436S

c.1307A>G

2 papers

NM_001127715.4

p.N436D

c.1306A>G

1 paper

NM_001127715.4

p.Y417F

c.1250A>T

1 paper

NM_001127715.4

p.I413F

c.1237A>T