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

1 paper

NM_152515.5

p.D572Y

c.1714G>T

Surrounding Variants

1 paper

NM_152515.5

p.A566V

c.1697C>T

1 paper

NM_152515.5

p.K561R

c.1682A>G

1 paper

NM_152515.5

p.C560S

c.1679G>C

1 paper

NM_152515.5

p.C560S

c.1678T>A

2 papers

NM_152515.5

p.F554_A555del2

c.1660_1664del6

1 paper

NM_152515.5

p.T586_P587Splc

c.1758+9C>T

1 paper

NM_152515.5

p.E552Q

c.1654G>C

1 paper

NM_152515.5

p.I541I

c.1623A>T

2 papers

NM_152515.5

p.T586_P587Splc

c.1759-2A>G

1 paper

NM_152515.5

p.G608Splc

c.1822+1G>A

1 paper

NM_152515.5

p.G608Splc

c.1822+15G>C

6 papers

NM_152515.5

p.L614S

c.1841T>C