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

5 papers

NM_001194998.2

p.W105*

c.315G>A

Surrounding Variants

6 papers

NM_001194998.2

p.W105*

c.314G>A

1 paper

NM_001194998.2

p.E106K

c.316G>A

3 papers

NM_001194998.2

p.R115*

c.343C>T

1 paper

NM_001194998.2

p.R115Q

c.344G>A

1 paper

NM_001194998.2

p.G88A

c.263G>C

1 paper

NM_001194998.2

p.G128D

c.383G>A

1 paper

NM_001194998.2

p.N87_G88Splc

c.262-40T>A

1 paper

NM_001194998.2

p.L143insFs

c.427_428insA

1 paper

NM_001194998.2

p.E148Q

c.442G>C

4 papers

NM_001194998.2

p.N87_G88Splc

c.261+1G>C

2 papers

NM_001194998.2

p.S85R

c.255T>G

1 paper

NM_001194998.2

p.S85S

c.255T>C