Varaico: Literature-Extracted Genetic Variants

STXBP5L

84 papers

RefSeq Summary

The protein encoded by this gene is similar to syntaxin-binding protein 5 and contains ten N-terminal WD40 repeats, four variable region WD40 repeats, and a C-terminal R-SNARE domain. Studies of the o...

Pfam Domains

WD40aa 242–278UCSCWD domain, G-beta repeat

LLGLaa 288–397UCSCLLGL2

Lgl_Caa 789–1049UCSCLethal giant larvae(Lgl) like, C-terminal

Gene Aliases

HGNC Name

syntaxin binding protein 5L

HGNC Alias Symbols

KIAA1006; LLGL4; tomosyn-2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001308330.2

p.V379M

c.1135G>A

Surrounding Variants

1 paper

NM_001308330.2

p.Q373Q

c.1119A>G

1 paper

NM_001308330.2

p.D385G

c.1154A>G

1 paper

NM_001308330.2

p.P422S

c.1264C>T

1 paper

NM_001308330.2

p.G433E

c.1298G>A

1 paper

NM_001308330.2

p.K438N

c.1314A>C

1 paper

NM_001308330.2

p.K438N

c.1314A>T

1 paper

NM_001308330.2

p.W446*

c.1338G>A

1 paper

NM_001308330.2

p.G451R

c.1351G>A

1 paper

NM_001308330.2

p.G451R

c.1351G>C