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.K374K

c.1122G>A

Surrounding Variants

1 paper

NM_001271989.2

p.L291del1

c.871_873delCAG

1 paper

NM_024899.4

p.Q360Q

c.1080G>A

1 paper

NM_024899.4

p.K359*

c.1075A>T

1 paper

NM_001271989.2

p.A265T

c.793G>A

1 paper

NM_024899.4

p.Q338fs

c.1012_1013fs

2 papers

NM_024899.4

p.A329T

c.985G>A

1 paper

NM_024899.4

p.H301_N302delFs

c.903_904delTG

1 paper

NM_024899.4

p.H301fs

c.901_902fs

1 paper

NM_024899.4

p.W291del1

c.871_872delCCA

1 paper

NM_024899.4

p.K279R

c.836A>G

1 paper

NM_024899.4

p.K279Q

c.835A>C

1 paper

NM_001271989.2

p.D301_C302delFs

c.903_904delAG