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

3 papers

NM_018451.5

p.Q14*

c.40C>T

Surrounding Variants

1 paper

NM_018451.5

p.G13G

c.39G>C

3 papers

NM_018451.5

p.N15fs

c.43_44fs

3 papers

NM_018451.5

p.N15delFs

c.43_44delTT

1 paper

NM_018451.5

p.F16I

c.46T>A

1 paper

NM_018451.5

p.L17insFs

c.50dupT

1 paper

NM_018451.5

p.E9*

c.25G>T

1 paper

NM_018451.5

p.S8_E9insFs

c.24_25insGT

1 paper

NM_018451.5

p.S7fs

c.19_20fs

1 paper

NM_018451.5

p.S7P

c.19T>C

15 papers

NM_018451.5

p.T6delFs

c.17delG

7 papers

NM_018451.5

p.S7fs

c.19_20fs

2 papers

NM_018451.5

p.M21L

c.61A>T