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.K292insFs

c.874_875insA

Surrounding Variants

1 paper

NM_001194998.2

p.F294C

c.881T>G

1 paper

NM_001194998.2

p.I302fs

c.904_905fs

1 paper

NM_001194998.2

p.G282delFs

c.844_845delCC

1 paper

NM_001194998.2

p.D278Splc

c.833-4G>A

1 paper

NM_001194998.2

p.L318*

c.953T>A

1 paper

NM_001194998.2

p.Q324delFs

c.970delG

1 paper

NM_001194998.2

p.Q324_M325Splc

c.972+2T>A

1 paper

NM_001194998.2

p.N270K

c.810T>A

1 paper

NM_001194998.2

p.R267*

c.799C>T

8 papers

NM_001194998.2

p.Q265P

c.794A>C

1 paper

NM_001194998.2

p.N260S

c.779A>G

1 paper

NM_001194998.2

p.A247T

c.739G>A