Varaico: Literature-Extracted Genetic Variants

CEP76

37 papers

RefSeq Summary

This gene encodes a centrosomal protein which regulates centriole amplification by limiting centriole duplication to once per cell cycle. Alternative splicing results in multiple transcript variants. ...

Pfam Domains

CEP76_Naa 10–69UCSCCEP76 N-terminal domain

CEP76-C2aa 99–258UCSCCEP76 C2 domain

CEPT76_peptidaseaa 361–491UCSCCEP76 peptidase-like domain

CEP76_Caa 517–656UCSCCentrosomal protein of 76 kDa C-terminal domain

Gene Aliases

HGNC Name

centrosomal protein 76

HGNC Previous Symbol

C18orf9

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_024899.4

p.S507insFs

c.1520_1521insT

Surrounding Variants

1 paper

NM_024899.4

p.L508fs

c.1522_1523fs

1 paper

NM_024899.4

p.F511I

c.1531T>A

1 paper

NM_024899.4

p.A521T

c.1561G>A

1 paper

NM_024899.4

p.A521V

c.1562C>T

1 paper

NM_024899.4

p.C478R

c.1432T>C

1 paper

NM_024899.4

p.V443F

c.1327G>T

1 paper

NM_001271989.2

p.D301_C302delFs

c.903_904delAG

1 paper

NM_024899.4

p.R568P

c.1703G>C

1 paper

NM_001271989.2

p.A507insFs

c.1520_1521insT

1 paper

NM_024899.4

p.I621V

c.1861A>G

1 paper

NM_024899.4

p.R625H

c.1874G>A

1 paper

NM_024899.4

p.R634H

c.1901G>A