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.D1196E

c.3588C>A

Surrounding Variants

1 paper

NM_018451.5

p.D1196E

c.3588C>G

3 papers

NM_018451.5

p.D1196N

c.3586G>A

1 paper

NM_018451.5

p.K1198N

c.3594G>C

1 paper

NM_018451.5

p.V1190_T1191insFs

c.3568_3571dup4

1 paper

NM_018451.5

p.T1191fs

c.3571_3572fs

1 paper

NM_018451.5

p.V1190F

c.3568G>T

1 paper

NM_018451.5

p.V1206del1

c.3616_3617delCAC

1 paper

NM_018451.5

p.D1184_G1185delFs

c.3552_3553delCA

1 paper

NM_018451.5

p.L1172_F1173del2

c.3514_3518del6

1 paper

NM_018451.5

p.R1169C

c.3505C>T

1 paper

NM_018451.5

p.C1168Y

c.3503G>A

1 paper

NM_018451.5

p.K1162N

c.3486G>T