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.Q78E

c.232C>G

Surrounding Variants

1 paper

NM_024899.4

p.S83_P84insG

c.247_251ins3

1 paper

NM_024899.4

p.S83A

c.247T>G

1 paper

NM_024899.4

p.S83C

c.248C>G

1 paper

NM_024899.4

p.Q86L

c.257A>T

2 papers

NM_024899.4

p.T99delFs

c.295delT

1 paper

NM_024899.4

p.T99fs

c.295_296fs

2 papers

NM_024899.4

p.I101T

c.302T>C

1 paper

NM_024899.4

p.D102H

c.304G>C

1 paper

NM_024899.4

p.P103S

c.307C>T

1 paper

NM_024899.4

p.Y107*

c.321T>G

1 paper

NM_024899.4

p.Y107*

c.321T>A

1 paper

NM_024899.4

p.L113S

c.338T>C