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.P85T

c.253C>A

Surrounding Variants

1 paper

NM_018451.5

p.P85A

c.253C>G

1 paper

NM_018451.5

p.P85R

c.254C>G

1 paper

NM_018451.5

p.P85P

c.255T>A

1 paper

NM_018451.5

p.N84S

c.251A>G

1 paper

NM_018451.5

p.N83fs

c.247_248fs

1 paper

NM_018451.5

p.K87I

c.260A>T

1 paper

NM_018451.5

p.S82_N83insFs

c.246_247insGA

1 paper

NM_018451.5

p.P88S

c.262C>T

1 paper

NM_018451.5

p.Q89P

c.266A>C

1 paper

NM_018451.5

p.L80L

c.238T>C

1 paper

NM_018451.5

p.L74V

c.220C>G

2 papers

NM_018451.5

p.T97insFs

c.289dupA