Varaico: Literature-Extracted Genetic Variants

CKAP2L

76 papers

RefSeq Summary

The protein encoded by this gene is thought to be a mitotic spindle protein important to neural stem or progenitor cells. Mutations in this gene have been associated with spindle organization defects,...

Pfam Domains

CKAP2_Caa 423–669UCSCCytoskeleton-associated protein 2 C-terminus

CKAP2_Caa 671–734UCSCCytoskeleton-associated protein 2 C-terminus

Gene Aliases

HGNC Name

cytoskeleton associated protein 2 like

HGNC Alias Symbols

FLJ40629; radmis

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_152515.5

p.G27fs

c.79_80fs

Surrounding Variants

3 papers

NM_152515.5

p.K26_G27insFs

c.78_79insTT

1 paper

NM_152515.5

p.A25V

c.74C>T

1 paper

NM_152515.5

p.Q20delFs

c.59_60delCT

1 paper

NM_152515.5

p.T34N

c.101C>A

3 papers

NM_152515.5

p.L19F

c.55C>T

1 paper

NM_152515.5

p.Q16R

c.47A>G

1 paper

NM_152515.5

p.K35Splc

c.104+16C>A

1 paper

NM_152515.5

p.S40Y

c.119C>A

1 paper

NM_152515.5

p.T7P

c.19A>C

1 paper

NM_152515.5

p.P4S

c.10C>T

5 papers

NM_152515.5

p.M1T

c.2T>C

2 papers

NM_152515.5

p.T53fs

c.157_158fs