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.D705E

c.2115C>G

Surrounding Variants

1 paper

NM_018451.5

p.E707_E708ins3

c.2121_2122ins9

1 paper

NM_018451.5

p.E719V

c.2156A>T

1 paper

NM_018451.5

p.W689R

c.2065T>C

1 paper

NM_018451.5

p.W689R

c.2065T>A

1 paper

NM_018451.5

p.S683F

c.2048C>T

1 paper

NM_018451.5

p.K680N

c.2040G>T

1 paper

NM_018451.5

p.K680N

c.2040G>C

1 paper

NM_018451.5

p.Q679*

c.2035C>T

1 paper

NM_018451.5

p.V734I

c.2200G>A

1 paper

NM_018451.5

p.D743V

c.2228A>T

1 paper

NM_018451.5

p.L661F

c.1983G>T

1 paper

NM_018451.5

p.L661F

c.1983G>C