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.Q521*

c.1561C>T

Surrounding Variants

1 paper

NM_018451.5

p.W517G

c.1549T>G

1 paper

NM_018451.5

p.T515K

c.1544C>A

1 paper

NM_018451.5

p.C514R

c.1540T>C

1 paper

NM_018451.5

p.D524_L528del5

c.1570_1583del15

3 papers

NM_018451.5

p.S529*

c.1586C>G

2 papers

NM_018451.5

p.S529*

c.1586C>A

2 papers

NM_018451.5

p.D511N

c.1531G>A

1 paper

NM_018451.5

p.P507L

c.1520C>T

1 paper

NM_018451.5

p.R535_L536insA

c.1603_1607ins3

1 paper

NM_018451.5

p.E505K

c.1513G>A

1 paper

NM_018451.5

p.K539*

c.1615A>T

1 paper

NM_018451.5

p.A538insFs

c.1614dupT