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.E1300E

c.3900A>G

Surrounding Variants

1 paper

NM_001008938.4

p.R1310H

c.3929G>A

1 paper

NM_001008938.4

p.S1335delFs

c.4003delA

1 paper

NM_001008938.4

p.S1335fs

c.4003_4004fs

1 paper

NM_001008938.4

p.N1337delFs

c.4010delT

1 paper

NM_001008938.4

p.P1362S

c.4084C>T

1 paper

NM_001008938.4

p.G1376R

c.4126G>C

1 paper

NM_001008938.4

p.G1376R

c.4126G>A

1 paper

NM_001008938.4

p.T1392T

c.4176G>A

1 paper

NM_001008938.4

p.G1398W

c.4192G>T

1 paper

NM_001008938.4

p.D1210E

c.3630T>G

1 paper

NM_001008938.4

p.D1210E

c.3630T>A

1 paper

NM_001008938.4

p.P1188S

c.3562C>T