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.T255A

c.763A>G

Surrounding Variants

1 paper

NM_018451.5

p.L254L

c.760T>C

2 papers

NM_018451.5

p.V253I

c.757G>A

1 paper

NM_018451.5

p.V253fs

c.757_758fs

2 papers

NM_018451.5

p.A259V

c.776C>T

2 papers

NM_018451.5

p.A259fs

c.775_776fs

1 paper

NM_018451.5

p.A259_P261delFs

c.777_781del5

2 papers

NM_018451.5

p.N262fs

c.784_785fs

1 paper

NM_018451.5

p.N262_L263delFs

c.784_787del4

1 paper

NM_018451.5

p.R246_T247insGA

c.736_740ins6

1 paper

NM_018451.5

p.E240K

c.718G>A

1 paper

NM_018451.5

p.A272V

c.815C>T

1 paper

NM_018451.5

p.V274A

c.821T>C