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.A585T

c.1753G>A

Surrounding Variants

1 paper

NM_018451.5

p.D586N

c.1756G>A

2 papers

NM_018451.5

p.Q583H

c.1749A>T

1 paper

NM_018451.5

p.D586G

c.1757A>G

2 papers

NM_018451.5

p.Q583H

c.1749A>C

1 paper

NM_018451.5

p.S589A

c.1765T>G

1 paper

NM_018451.5

p.L575S

c.1724T>C

1 paper

NM_018451.5

p.S595A

c.1783T>G

1 paper

NM_018451.5

p.V597I

c.1789G>A

1 paper

NM_018451.5

p.I600insFs

c.1798dupA

1 paper

NM_018451.5

p.E602fs

c.1804_1805fs

1 paper

NM_018451.5

p.E602_R603delFs

c.1805_1808del4

1 paper

NM_018451.5

p.R566*

c.1696C>T