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

1–12 of 96 variants

6 papers

NM_152515.5

p.I375V

c.1123A>G

6 papers

NM_152515.5

p.L614S

c.1841T>C

5 papers

NM_152515.5

p.M1T

c.2T>C

5 papers

NM_152515.5

p.I191insFs

c.571dupA

4 papers

NM_152515.5

p.K185delFs

c.554_555delTT

4 papers

NM_152515.5

p.I191fs

c.571_572fs

3 papers

NM_152515.5

p.L19F

c.55C>T

3 papers

NM_152515.5

p.K26_G27insFs

c.78_79insTT

3 papers

NM_152515.5

p.N62S

c.185A>G

3 papers

NM_152515.5

p.L78_Q79insTT

c.232_236ins6

3 papers

NM_152515.5

p.S251delFs

c.751delT

2 papers

NM_152515.5

p.G27fs

c.79_80fs