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.P219L

c.656C>T

Surrounding Variants

1 paper

NM_018451.5

p.T215K

c.644C>A

1 paper

NM_018451.5

p.Y223*

c.669C>G

1 paper

NM_018451.5

p.Y223*

c.669C>A

1 paper

NM_018451.5

p.A214insFs

c.642dupC

1 paper

NM_018451.5

p.E212D

c.636G>T

1 paper

NM_018451.5

p.E212D

c.636G>C

3 papers

NM_018451.5

p.E212*

c.634G>T

1 paper

NM_018451.5

p.Q228H

c.684G>T

1 paper

NM_018451.5

p.Q228H

c.684G>C

1 paper

NM_018451.5

p.E240K

c.718G>A

1 paper

NM_018451.5

p.P195R

c.584C>G

1 paper

NM_018451.5

p.R246_T247insGA

c.736_740ins6