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

4 papers

NM_001194998.2

p.I394V

c.1180A>G

Surrounding Variants

2 papers

NM_001194998.2

p.C395Y

c.1184G>A

1 paper

NM_001194998.2

p.V402M

c.1204G>A

1 paper

NM_001194998.2

p.L427_E428insA

c.1279_1283ins3

1 paper

NM_001194998.2

p.S430delFs

c.1289delC

1 paper

NM_001194998.2

p.G441Splc

c.1321+2T>C

1 paper

NM_001194998.2

p.Q454*

c.1360C>T

1 paper

NM_001194998.2

p.Q471P

c.1412A>C

1 paper

NM_001194998.2

p.Q471_E472Splc

c.1414-14A>G

1 paper

NM_001194998.2

p.H493delFs

c.1477delG

1 paper

NM_001194998.2

p.E500V

c.1499A>T

1 paper

NM_001194998.2

p.D511N

c.1531G>A

3 papers

NM_001194998.2

p.L512*

c.1535T>A