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

1 paper

NM_001194998.2

p.Y678_Q679del1

c.2034_2036delTGA

Surrounding Variants

16 papers

NM_001194998.2

p.Y678*

c.2034T>G

15 papers

NM_001194998.2

p.Y678*

c.2034T>A

1 paper

NM_001194998.2

p.Q680H

c.2040G>C

1 paper

NM_001194998.2

p.H681Y

c.2041C>T

1 paper

NM_001194998.2

p.C674F

c.2021G>T

1 paper

NM_001194998.2

p.Q703E

c.2107C>G

4 papers

NM_001194998.2

p.R716Splc

c.2148-17G>A

1 paper

NM_001194998.2

p.K724delFs

c.2170delT

1 paper

NM_001194998.2

p.V726A

c.2177T>C

1 paper

NM_001194998.2

p.T746A

c.2236A>G

1 paper

NM_001194998.2

p.T751A

c.2251A>G

1 paper

NM_001194998.2

p.E669V

c.2006A>T