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.D13G

c.38A>G

Surrounding Variants

1 paper

NM_001008938.4

p.G2insFs

c.5_6ins23

1 paper

NM_001008938.4

p.M1insFs

c.2_3insTG

2 papers

NM_001008938.4

p.A23T

c.67G>A

1 paper

NM_001008938.4

p.L52F

c.156G>C

1 paper

NM_001008938.4

p.F56I

c.166T>A

1 paper

NM_001008938.4

p.K84R

c.251A>G

1 paper

NM_001008938.4

p.P101L

c.302C>T

1 paper

NM_001008938.4

p.E127D

c.381A>T

1 paper

NM_001008938.4

p.N135S

c.404A>G

1 paper

NM_001008938.4

p.A151V

c.452C>T