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.S1726S

c.5178C>T

Surrounding Variants

1 paper

NM_001008938.4

p.L1719L

c.5157G>T

1 paper

NM_001008938.4

p.I1736I

c.5208C>A

1 paper

NM_001008938.4

p.Q1750*

c.5248C>T

1 paper

NM_001008938.4

p.N1786N

c.5358C>T

1 paper

NM_001008938.4

p.R1819Q

c.5456G>A

1 paper

NM_001008938.4

p.G1849G

c.5547A>G

1 paper

NM_001008938.4

p.Y1860H

c.5578T>C

1 paper

NM_001008938.4

p.R1885W

c.5653C>T

1 paper

NM_001008938.4

p.L1696V

c.5086C>G

1 paper

NM_001008938.4

p.S1898C

c.5693C>G

1 paper

NM_001008938.4

p.E1659D

c.4977G>T

1 paper

NM_001008938.4

p.R1632W

c.4894C>T