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

5 papers

NM_018451.5

p.S1081_Q1082delFs

c.3243_3246del4

Surrounding Variants

1 paper

NM_018451.5

p.S1081fs

c.3241_3242fs

1 paper

NM_018451.5

p.S1081R

c.3243T>G

1 paper

NM_018451.5

p.S1081R

c.3243T>A

4 papers

NM_018451.5

p.S1081fs

c.3241_3242fs

1 paper

NM_018451.5

p.S1081R

c.3241A>C

1 paper

NM_018451.5

p.Q1079R

c.3236A>G

1 paper

NM_018451.5

p.T1074I

c.3221C>T

1 paper

NM_018451.5

p.A1072_N1073Splc

c.3217-1G>A

1 paper

NM_018451.5

p.G1101Splc

c.3301+22T>A

1 paper

NM_018451.5

p.A1072V

c.3215C>T

1 paper

NM_018451.5

p.E1064K

c.3190G>A

1 paper

NM_018451.5

p.L1063R

c.3188T>G