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.N76H

c.226A>C

Surrounding Variants

1 paper

NM_001194998.2

p.Q84R

c.251A>G

2 papers

NM_001194998.2

p.S85R

c.253A>C

1 paper

NM_001194998.2

p.S85I

c.254G>T

2 papers

NM_001194998.2

p.S85R

c.255T>G

1 paper

NM_001194998.2

p.S85S

c.255T>C

2 papers

NM_001194998.2

p.S85R

c.255T>A

1 paper

NM_001194998.2

p.H66L

c.197A>T

1 paper

NM_001194998.2

p.P65fs

c.193_194fs

4 papers

NM_001194998.2

p.N87_G88Splc

c.261+1G>C

1 paper

NM_001194998.2

p.N87_G88Splc

c.262-40T>A

1 paper

NM_001194998.2

p.G88A

c.263G>C

1 paper

NM_001194998.2

p.Q64Splc

c.191+103C>T