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.T568S

c.1702A>T

Surrounding Variants

3 papers

NM_001308330.2

p.T568S

c.1703C>G

1 paper

NM_001308330.2

p.E564A

c.1691A>C

1 paper

NM_001308330.2

p.D562V

c.1685A>T

1 paper

NM_001308330.2

p.P576P

c.1728G>A

3 papers

NM_001308330.2

p.L559F

c.1675C>T

1 paper

NM_001308330.2

p.R558Q

c.1673G>A

1 paper

NM_001308330.2

p.R558*

c.1672C>T

1 paper

NM_001308330.2

p.T594S

c.1780A>T

1 paper

NM_001308330.2

p.T594S

c.1781C>G

1 paper

NM_001308330.2

p.E637K

c.1909G>A

1 paper

NM_001308330.2

p.A650fs

c.1948_1949fs

1 paper

NM_001308330.2

p.G652R

c.1954G>C