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

2 papers

NM_001008938.4

p.Q606*

c.1816C>T

Surrounding Variants

1 paper

NM_001008938.4

p.P602S

c.1804C>T

1 paper

NM_001008938.4

p.S588_I589Splc

c.1765-1G>C

1 paper

NM_001008938.4

p.P560A

c.1678C>G

1 paper

NM_001008938.4

p.G558R

c.1672G>C

1 paper

NM_001008938.4

p.G558R

c.1672G>A

1 paper

NM_001008938.4

p.P555S

c.1663C>T

1 paper

NM_001008938.4

p.D631N

c.1891G>A

1 paper

NM_001008938.4

p.Q656_V657Splc

c.1969-38G>A

1 paper

NM_001008938.4

p.S678L

c.2033C>T

1 paper

NM_001008938.4

p.K511N

c.1533G>T

1 paper

NM_001008938.4

p.K511N

c.1533G>C

1 paper

NM_001008938.4

p.K700E

c.2098A>G