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.G34delFs

c.102delT

Surrounding Variants

1 paper

NM_018451.5

p.P36fs

c.106_107fs

1 paper

NM_018451.5

p.N23_G28delFs

c.67_83del17

1 paper

NM_018451.5

p.D41A

c.122A>C

3 papers

NM_018451.5

p.K42fs

c.124_125fs

1 paper

NM_018451.5

p.A27G

c.80C>G

4 papers

NM_018451.5

p.K42delFs

c.125_126delTT

1 paper

NM_018451.5

p.R26W

c.76C>T

4 papers

NM_018451.5

p.R45*

c.133C>T

2 papers

NM_018451.5

p.E43_K44del2

c.127_131del6

1 paper

NM_018451.5

p.R45_A46insFs

c.135_136insC

2 papers

NM_018451.5

p.M21L

c.61A>T

3 papers

NM_018451.5

p.M21V

c.61A>G