Varaico: Literature-Extracted Genetic Variants

CPAP

272 papers

RefSeq Summary

This gene encodes a protein that belongs to the centromere protein family. During cell division, this protein plays a structural role in the maintenance of centrosome integrity and normal spindle morp...

Pfam Domains

Tubulin-bind_CPAPaa 321–387UCSCCPAP, tubulin-binding region

Tcp10_Caa 1148–1181UCSCT-complex protein 10 C-terminus

Tcp10_Caa 1221–1253UCSCT-complex protein 10 C-terminus

Tcp10_Caa 1257–1291UCSCT-complex protein 10 C-terminus

Tcp10_Caa 1293–1326UCSCT-complex protein 10 C-terminus

Gene Aliases

HGNC Name

centrosome assembly and centriole elongation protein

HGNC Previous Symbols

CENPJ; MCPH6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018451.5

p.A137delFs

c.410delG

Surrounding Variants

1 paper

NM_018451.5

p.A137fs

c.409_410fs

1 paper

NM_018451.5

p.E135_G136insC

c.403_407ins3

1 paper

NM_018451.5

p.F133Y

c.398T>A

1 paper

NM_018451.5

p.F143insFs

c.427_428insA

1 paper

NM_018451.5

p.E132K

c.394G>A

1 paper

NM_018451.5

p.L129V

c.385C>G

1 paper

NM_018451.5

p.F125_I126del2

c.373_377del6

1 paper

NM_018451.5

p.N123Y

c.367A>T

1 paper

NM_018451.5

p.N121K

c.363C>G

1 paper

NM_018451.5

p.N121K

c.363C>A

1 paper

NM_018451.5

p.E119D

c.357A>T

1 paper

NM_018451.5

p.E119K

c.355G>A