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

2 papers

NM_001194998.2

p.Q1022R

c.3065A>G

Surrounding Variants

1 paper

NM_001194998.2

p.Q1022_S1023delFs

c.3066_3069del4

1 paper

NM_001194998.2

p.T1018insFs

c.3053dupC

1 paper

NM_001194998.2

p.L1008Q

c.3023T>A

2 papers

NM_001194998.2

p.K1005Fs

c.3014_3015delinsTFs

3 papers

NM_001194998.2

p.K1005fs

c.3013_3014fs

2 papers

NM_001194998.2

p.A995V

c.2984C>T

2 papers

NM_001194998.2

p.L1050P

c.3149T>C

1 paper

NM_001194998.2

p.V1052I

c.3154G>A

1 paper

NM_001194998.2

p.L1053F

c.3157C>T

6 papers

NM_001194998.2

p.R987*

c.2959C>T

1 paper

NM_001194998.2

p.Q1058delFs

c.3172delG

1 paper

NM_001194998.2

p.Q1058fs

c.3172_3173fs