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

1–12 of 135 variants

4 papers

NM_001008938.4

p.D1489E

c.4467T>G

4 papers

NM_001008938.4

p.D1489E

c.4467T>A

2 papers

NM_001008938.4

p.A23T

c.67G>A

2 papers

NM_001008938.4

p.K163N

c.489G>C

2 papers

NM_001008938.4

p.Q606*

c.1816C>T

2 papers

NM_001008938.4

p.Q813R

c.2438A>G

2 papers

NM_001008938.4

p.F1531F

c.4593C>T

1 paper

NM_001008938.4

p.M1insFs

c.2_3insTG

1 paper

NM_001008938.4

p.G2insFs

c.5_6ins23

1 paper

NM_001008938.4

p.D13G

c.38A>G

1 paper

NM_001008938.4

p.L52F

c.156G>C

1 paper

NM_001008938.4

p.F56I

c.166T>A