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

6 papers

NM_152515.5

p.I375V

c.1123A>G

Surrounding Variants

1 paper

NM_152515.5

p.T382R

c.1145C>G

1 paper

NM_152515.5

p.I390fs

c.1168_1169fs

1 paper

NM_152515.5

p.I390_P391delFs

c.1169_1173del5

1 paper

NM_152515.5

p.Q355P

c.1064A>C

1 paper

NM_152515.5

p.G403fs

c.1207_1208fs

1 paper

NM_152515.5

p.G342S

c.1024G>A

1 paper

NM_152515.5

p.Q412H

c.1236G>T

1 paper

NM_152515.5

p.Q412H

c.1236G>C

1 paper

NM_152515.5

p.N409_Q413delFs

c.1227_1237del11

1 paper

NM_152515.5

p.R327_V328delFs

c.981_982delCT

1 paper

NM_152515.5

p.R327fs

c.979_980fs

1 paper

NM_152515.5

p.E325K

c.973G>A