Varaico: Literature-Extracted Genetic Variants

CKAP5

122 papers

RefSeq Summary

This gene encodes a cytoskeleton-associated protein which belongs to the TOG/XMAP215 family. The N-terminal half of this protein contains a microtubule-binding domain and the C-terminal half contains ...

Pfam Domains

XMAP215_CLASP_TOGaa 6–218UCSCXMAP215/Dis1/CLASP, TOG domain

HEATaa 440–470UCSCHEAT repeat

XMAP215_CLASP_TOGaa 603–809UCSCXMAP215/Dis1/CLASP, TOG domain

CLASP_Naa 855–1069UCSCCLASP N terminal

XMAP215_CLASP_TOGaa 1242–1420UCSCXMAP215/Dis1/CLASP, TOG domain

Gene Aliases

HGNC Name

cytoskeleton associated protein 5

HGNC Alias Symbols

ch-TOG; KIAA0097; TOG; TOGp

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001008938.4

p.P170delFs

c.508delG

Surrounding Variants

1 paper

NM_001008938.4

p.R176Q

c.527G>A

1 paper

NM_001008938.4

p.E177*

c.529G>T

1 paper

NM_001008938.4

p.K163N

c.489G>T

2 papers

NM_001008938.4

p.K163N

c.489G>C

1 paper

NM_001008938.4

p.G156C

c.466G>T

1 paper

NM_001008938.4

p.R196W

c.586C>T

1 paper

NM_001008938.4

p.Q210*

c.628C>T

1 paper

NM_001008938.4

p.L242F

c.726G>C

1 paper

NM_001008938.4

p.A248T

c.742G>A

1 paper

NM_001008938.4

p.A252V

c.755C>T

1 paper

NM_001008938.4

p.G255D

c.764G>A

1 paper

NM_001008938.4

p.P263T

c.787C>A