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.R263S

c.789A>T

Surrounding Variants

1 paper

NM_152515.5

p.R263S

c.789A>C

3 papers

NM_152515.5

p.S251delFs

c.751delT

2 papers

NM_152515.5

p.S251fs

c.751_752fs

1 paper

NM_152515.5

p.G247R

c.739G>C

1 paper

NM_152515.5

p.G247R

c.739G>A

2 papers

NM_152515.5

p.S308G

c.922A>G

1 paper

NM_152515.5

p.E311G

c.932A>G

2 papers

NM_152515.5

p.K210E

c.628A>G

1 paper

NM_152515.5

p.L203S

c.608T>C

2 papers

NM_152515.5

p.T324fs

c.970_971fs

2 papers

NM_152515.5

p.T324insFs

c.970dupA

1 paper

NM_152515.5

p.E325K

c.973G>A