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.F1531F

c.4593C>T

Surrounding Variants

1 paper

NM_001008938.4

p.N1543K

c.4629T>G

1 paper

NM_001008938.4

p.N1543K

c.4629T>A

1 paper

NM_001008938.4

p.K1523Splc

c.4568+49C>A

1 paper

NM_001008938.4

p.E1521*

c.4561G>T

4 papers

NM_001008938.4

p.D1489E

c.4467T>G

4 papers

NM_001008938.4

p.D1489E

c.4467T>A

1 paper

NM_001008938.4

p.R1482Q

c.4445G>A

1 paper

NM_001008938.4

p.A1476T

c.4426G>A

1 paper

NM_001008938.4

p.D1459D

c.4377C>T

1 paper

NM_001008938.4

p.G1455G

c.4365A>G

1 paper

NM_001008938.4

p.Q1440R

c.4319A>G

1 paper

NM_001008938.4

p.Q1563_I1564Splc

c.4690-1525G>A