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

1–12 of 359 variants

22 papers

NM_018451.5

p.E1235V

c.3704A>T

15 papers

NM_018451.5

p.T6delFs

c.17delG

11 papers

NM_018451.5

p.G1101Splc

c.3302-1G>C

7 papers

NM_018451.5

p.S7fs

c.19_20fs

6 papers

NM_018451.5

p.Q421H

c.1263G>C

6 papers

NM_018451.5

p.T821M

c.2462C>T

5 papers

NM_018451.5

p.Q421H

c.1263G>T

5 papers

NM_018451.5

p.S1081_Q1082delFs

c.3243_3246del4

4 papers

NM_018451.5

p.K42delFs

c.125_126delTT

4 papers

NM_018451.5

p.R45*

c.133C>T

4 papers

NM_018451.5

p.T255A

c.763A>G

4 papers

NM_018451.5

p.S879A

c.2635T>G