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

1–12 of 239 variants

16 papers

NM_001194998.2

p.Y678*

c.2034T>G

15 papers

NM_001194998.2

p.Y678*

c.2034T>A

10 papers

NM_001194998.2

p.W960R

c.2878T>C

9 papers

NM_001194998.2

p.W960R

c.2878T>A

8 papers

NM_001194998.2

p.Q265P

c.794A>C

6 papers

NM_001194998.2

p.W105*

c.314G>A

6 papers

NM_001194998.2

p.R987*

c.2959C>T

5 papers

NM_001194998.2

p.W105*

c.315G>A

4 papers

NM_001194998.2

p.N87_G88Splc

c.261+1G>C

4 papers

NM_001194998.2

p.I394V

c.1180A>G

4 papers

NM_001194998.2

p.K667R

c.2000A>G

4 papers

NM_001194998.2

p.R716Splc

c.2148-17G>A