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.H642_K647delFs

c.1926_1941del16

Surrounding Variants

1 paper

NM_018451.5

p.K647fs

c.1939_1940fs

1 paper

NM_018451.5

p.R645H

c.1934G>A

1 paper

NM_018451.5

p.R645C

c.1933C>T

1 paper

NM_018451.5

p.A654T

c.1960G>A

1 paper

NM_018451.5

p.K647_Q657delFs

c.1941_1971del31

1 paper

NM_018451.5

p.L658delFs

c.1973_1974delAA

1 paper

NM_018451.5

p.H659L

c.1976A>T

1 paper

NM_018451.5

p.L661F

c.1983G>T

1 paper

NM_018451.5

p.L661F

c.1983G>C

1 paper

NM_018451.5

p.D629D

c.1887T>C

1 paper

NM_018451.5

p.P627P

c.1881G>A

1 paper

NM_018451.5

p.A620_P622delFs

c.1858_1865del8