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

13 papers

NM_001127715.4

p.N436S

c.1307A>G

Surrounding Variants

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

7 papers

NM_001127715.4

p.L412V

c.1234C>G

1 paper

NM_001127715.4

p.P398S

c.1192C>T

1 paper

NM_001127715.4

p.E396K

c.1186G>A

1 paper

NM_001127715.4

p.S393R

c.1179T>A

1 paper

NM_001127715.4

p.S393R

c.1179T>G

1 paper

NM_001127715.4

p.S393R

c.1177A>C

1 paper

NM_001127715.4

p.E483Q

c.1447G>C

1 paper

NM_001127715.4

p.E483V

c.1448A>T

9 papers

NM_001127715.4

p.Y502C

c.1505A>G