Varaico: Literature-Extracted Genetic Variants

CEP57

91 papers

RefSeq Summary

This gene encodes a cytoplasmic protein called Translokin. This protein localizes to the centrosome and has a function in microtubular stabilization. The N-terminal half of this protein is required fo...

Pfam Domains

Cep57_CLDaa 68–245UCSCCentrosome localisation domain of Cep57

Cep57_MT_bdaa 348–421UCSCCentrosome microtubule-binding domain of Cep57

Gene Aliases

HGNC Name

centrosomal protein 57

HGNC Alias Symbols

Translokin; TSP57; KIAA0092

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_014679.5

p.R448G

c.1342A>G

Surrounding Variants

1 paper

NM_014679.5

p.T443S

c.1328C>G

1 paper

NM_014679.5

p.G458E

c.1373G>A

1 paper

NM_014679.5

p.K463_D464delFs

c.1388_1391del4

1 paper

NM_014679.5

p.K435del1

c.1303_1304delAAG

1 paper

NM_014679.5

p.M466K

c.1397T>A

1 paper

NM_014679.5

p.R474K

c.1421G>A

1 paper

NM_014679.5

p.S495N

c.1484G>A

1 paper

NM_014679.5

p.R419Q

c.1256G>A

1 paper

NM_014679.5

p.R419*

c.1255C>T

1 paper

NM_014679.5

p.V405L

c.1213G>C

2 papers

NM_014679.5

p.L404F

c.1212A>C

2 papers

NM_014679.5

p.L404F

c.1212A>T