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

1–12 of 90 variants

3 papers

NM_001308330.2

p.V379M

c.1135G>A

3 papers

NM_001308330.2

p.L559F

c.1675C>T

3 papers

NM_001308330.2

p.T568S

c.1702A>T

3 papers

NM_001308330.2

p.T568S

c.1703C>G

2 papers

NM_001308330.2

p.I87V

c.259A>G

2 papers

NM_001308330.2

p.R157*

c.469C>T

2 papers

NM_001308330.2

p.E855K

c.2563G>A

2 papers

NM_001308330.2

p.V1019I

c.3055G>A

2 papers

NM_001308330.2

p.D1043N

c.3127G>A

1 paper

NM_001308330.2

p.G12D

c.35G>A

1 paper

NM_001308330.2

p.L13insFs

c.37_38ins4

1 paper

NM_001308330.2

p.G19insFs

c.56_57ins13