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

2 papers

NM_024899.4

p.M179V

c.535A>G

Surrounding Variants

1 paper

NM_024899.4

p.D190N

c.568G>A

1 paper

NM_024899.4

p.D200H

c.598G>C

1 paper

NM_024899.4

p.G203R

c.607G>C

1 paper

NM_024899.4

p.E214K

c.640G>A

1 paper

NM_024899.4

p.S172N

c.515G>A

1 paper

NM_024899.4

p.L166P

c.497T>C

1 paper

NM_024899.4

p.K150_V152del3

c.448_455del9

1 paper

NM_024899.4

p.C133F

c.398G>T

1 paper

NM_024899.4

p.C133Y

c.398G>A

1 paper

NM_024899.4

p.G115R

c.343G>A

1 paper

NM_024899.4

p.L113S

c.338T>C

1 paper

NM_024899.4

p.Y107*

c.321T>G