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.E50_D51del1

c.150_152delTCT

Surrounding Variants

1 paper

NM_024899.4

p.E50_D51del2

c.148_152del6

1 paper

NM_024899.4

p.D51Y

c.151G>T

1 paper

NM_024899.4

p.Q44K

c.130C>A

1 paper

NM_024899.4

p.I36M

c.108A>G

1 paper

NM_024899.4

p.I28insFs

c.83_84insG

1 paper

NM_024899.4

p.I28fs

c.82_83fs

1 paper

NM_024899.4

p.V24D

c.71T>A

1 paper

NM_024899.4

p.Q78E

c.232C>G

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