Varaico: Literature-Extracted Genetic Variants

CEP152

180 papers

RefSeq Summary

This gene encodes a protein that is thought to be involved with centrosome function. Mutations in this gene have been associated with primary microcephaly (MCPH4). Alternative splicing results in mult...

Pfam Domains

PLK4_bind_CEP152aa 1–59UCSCCEP152, PLK4 binding region

CC_CEP63-bind_CEP152aa 1263–1313UCSCCEP152, CEP63 binding coiled coil

Gene Aliases

HGNC Name

centrosomal protein 152

HGNC Alias Symbols

KIAA0912; SCKL5; MCPH9

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

10 papers

NM_001194998.2

p.W960R

c.2878T>C

Surrounding Variants

9 papers

NM_001194998.2

p.W960R

c.2878T>A

1 paper

NM_001194998.2

p.E963delFs

c.2887delC

1 paper

NM_001194998.2

p.E963fs

c.2887_2888fs

1 paper

NM_001194998.2

p.E952Q

c.2854G>C

1 paper

NM_001194998.2

p.L938_K941insFs

c.2814_2821dup8

1 paper

NM_001194998.2

p.K941Q

c.2821A>C

6 papers

NM_001194998.2

p.R987*

c.2959C>T

1 paper

NM_001194998.2

p.I931delFs

c.2793delA

1 paper

NM_001194998.2

p.I931fs

c.2791_2792fs

1 paper

NM_001194998.2

p.K930insFs

c.2789dupA

2 papers

NM_001194998.2

p.E926V

c.2777A>T

2 papers

NM_001194998.2

p.A995V

c.2984C>T