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.Q997_T998Splc

c.2992-1G>T

Surrounding Variants

1 paper

NM_018451.5

p.Q1001K

c.3001C>A

1 paper

NM_018451.5

p.R1007Q

c.3020G>A

1 paper

NM_018451.5

p.A1004_R1012insFs

c.3012_3034dup23

1 paper

NM_018451.5

p.E1014E

c.3042A>G

1 paper

NM_018451.5

p.R1023C

c.3067C>T

1 paper

NM_018451.5

p.R1025G

c.3073A>G

1 paper

NM_018451.5

p.I1028delFs

c.3082delT

1 paper

NM_018451.5

p.Q1029*

c.3085C>T

1 paper

NM_018451.5

p.M1030V

c.3088A>G

1 paper

NM_018451.5

p.R1049*

c.3145C>T

1 paper

NM_018451.5

p.R1049G

c.3145C>G

1 paper

NM_018451.5

p.L1063R

c.3188T>G