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.L134R

c.401T>G

Surrounding Variants

1 paper

NM_152515.5

p.N143D

c.427A>G

1 paper

NM_152515.5

p.K119_S120ins0

c.357_359dupGAG

1 paper

NM_152515.5

p.S117C

c.350C>G

1 paper

NM_152515.5

p.S109F

c.326C>T

1 paper

NM_152515.5

p.N168D

c.502A>G

1 paper

NM_152515.5

p.P91Q

c.272C>A

1 paper

NM_152515.5

p.N184fs

c.550_551fs

2 papers

NM_152515.5

p.K185fs

c.553_554fs

1 paper

NM_152515.5

p.K185fs

c.553_554fs

4 papers

NM_152515.5

p.K185delFs

c.554_555delTT

1 paper

NM_152515.5

p.N184_K185delFs

c.552_555del4

1 paper

NM_152515.5

p.E186fs

c.556_557fs