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.R695Q

c.2084G>A

Surrounding Variants

1 paper

NM_152515.5

p.R692delFs

c.2076delC

1 paper

NM_152515.5

p.R689H

c.2066G>A

1 paper

NM_152515.5

p.E706D

c.2118A>T

1 paper

NM_152515.5

p.E706D

c.2118A>C

1 paper

NM_152515.5

p.V678V

c.2034G>A

1 paper

NM_152515.5

p.S713F

c.2138C>T

1 paper

NM_152515.5

p.I672_N673insFs

c.2016_2017insTT

2 papers

NM_152515.5

p.R671Splc

c.2013-7C>A

1 paper

NM_152515.5

p.R729C

c.2185C>T

1 paper

NM_152515.5

p.Q656H

c.1968G>T

1 paper

NM_152515.5

p.Q656H

c.1968G>C

1 paper

NM_152515.5

p.E655K

c.1963G>A