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.S407delFs

c.1221delG

Surrounding Variants

1 paper

NM_018451.5

p.E408fs

c.1222_1223fs

1 paper

NM_018451.5

p.S407fs

c.1219_1220fs

1 paper

NM_018451.5

p.T406insFs

c.1216_1217insC

1 paper

NM_018451.5

p.P411A

c.1231C>G

1 paper

NM_018451.5

p.N403insFs

c.1208dupA

1 paper

NM_018451.5

p.T402_N403insFs

c.1206_1207insC

1 paper

NM_018451.5

p.K414I

c.1241A>T

1 paper

NM_018451.5

p.D416H

c.1246G>C

1 paper

NM_018451.5

p.E397D

c.1191A>T

1 paper

NM_018451.5

p.Q421fs

c.1261_1262fs

1 paper

NM_018451.5

p.Q421P

c.1262A>C

5 papers

NM_018451.5

p.Q421H

c.1263G>T