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

2 papers

NM_018451.5

p.T1218M

c.3653C>T

Surrounding Variants

1 paper

NM_018451.5

p.E1222G

c.3665A>G

1 paper

NM_018451.5

p.P1221delFs

c.3663delC

2 papers

NM_018451.5

p.V1206_I1207Splc

c.3619-1G>T

1 paper

NM_018451.5

p.G1232G

c.3696A>G

1 paper

NM_018451.5

p.V1206del1

c.3616_3617delCAC

1 paper

NM_018451.5

p.E1235K

c.3703G>A

22 papers

NM_018451.5

p.E1235V

c.3704A>T

1 paper

NM_018451.5

p.K1198N

c.3594G>C

1 paper

NM_018451.5

p.P1239S

c.3715C>T

1 paper

NM_018451.5

p.D1196E

c.3588C>G

1 paper

NM_018451.5

p.D1196E

c.3588C>A

3 papers

NM_018451.5

p.D1196N

c.3586G>A