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

4 papers

NM_018451.5

p.R45*

c.133C>T

Surrounding Variants

2 papers

NM_018451.5

p.E43_K44del2

c.127_131del6

1 paper

NM_018451.5

p.R45_A46insFs

c.135_136insC

4 papers

NM_018451.5

p.K42delFs

c.125_126delTT

3 papers

NM_018451.5

p.K42fs

c.124_125fs

1 paper

NM_018451.5

p.D41A

c.122A>C

1 paper

NM_018451.5

p.D49E

c.147C>G

1 paper

NM_018451.5

p.I50S

c.149T>G

1 paper

NM_018451.5

p.I50_S51delFs

c.150_153del4

1 paper

NM_018451.5

p.S53N

c.158G>A

1 paper

NM_018451.5

p.P36fs

c.106_107fs

1 paper

NM_018451.5

p.G34delFs

c.102delT

2 papers

NM_018451.5

p.P55A

c.163C>G