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

2 papers

NM_001308330.2

p.I87V

c.259A>G

Surrounding Variants

1 paper

NM_001308330.2

p.P70T

c.208C>A

1 paper

NM_001308330.2

p.I96Splc

c.287+26C>A

1 paper

NM_001308330.2

p.H67fs

c.199_200fs

1 paper

NM_001308330.2

p.H67fs

c.199_200fs

1 paper

NM_001308330.2

p.R66delFs

c.197delG