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

1 paper

NM_001308330.2

p.T1113I

c.3338C>T

Surrounding Variants

1 paper

NM_001308330.2

p.G1135A

c.3404G>C

1 paper

NM_001308330.2

p.A1089V

c.3266C>T

1 paper

NM_001308330.2

p.G1061R

c.3181G>A

2 papers

NM_001308330.2

p.D1043N

c.3127G>A

1 paper

NM_001308330.2

p.D1043H

c.3127G>C

1 paper

NM_001308330.2

p.P1021S

c.3061C>T

2 papers

NM_001308330.2

p.V1019I

c.3055G>A

1 paper

NM_001308330.2

p.Y1017S

c.3050A>C

1 paper

NM_001308330.2

p.A1004_R1005del1

c.3012_3014delACG

1 paper

NM_001308330.2

p.L991F

c.2973G>C

1 paper

NM_001308330.2

p.L991F

c.2973G>T