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.W799*

c.2397G>A

Surrounding Variants

1 paper

NM_018451.5

p.W799*

c.2396G>A

1 paper

NM_018451.5

p.V811D

c.2432T>A

1 paper

NM_018451.5

p.S784_S787del4

c.2350_2360del12

1 paper

NM_018451.5

p.E816E

c.2448A>G

1 paper

NM_018451.5

p.V777_S781del5

c.2329_2342del15

1 paper

NM_018451.5

p.T818I

c.2453C>T

6 papers

NM_018451.5

p.T821M

c.2462C>T

1 paper

NM_018451.5

p.V777fs

c.2329_2330fs

1 paper

NM_018451.5

p.V777L

c.2329G>T

1 paper

NM_018451.5

p.V777L

c.2329G>C

1 paper

NM_018451.5

p.P822L

c.2465C>T

1 paper

NM_018451.5

p.K776_V777insFs

c.2328_2329ins4