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.P1136_D1137del1

c.3407_3409delCTG

Surrounding Variants

1 paper

NM_018451.5

p.P1136S

c.3406C>T

1 paper

NM_018451.5

p.P1136T

c.3406C>A

1 paper

NM_018451.5

p.E1139delFs

c.3416_3417delTT

1 paper

NM_018451.5

p.P1156A

c.3466C>G

1 paper

NM_018451.5

p.Q1122*

c.3364C>T

1 paper

NM_018451.5

p.S1109A

c.3325T>G

1 paper

NM_018451.5

p.R1105*

c.3313C>T

1 paper

NM_018451.5

p.P1103insFs

c.3309dupA

1 paper

NM_018451.5

p.N1102S

c.3305A>G

3 papers

NM_018451.5

p.N1102fs

c.3304_3305fs

1 paper

NM_018451.5

p.G1101A

c.3302G>C

1 paper

NM_018451.5

p.G1101D

c.3302G>A