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

2 papers

NM_014679.5

p.L404F

c.1212A>T

Surrounding Variants

2 papers

NM_014679.5

p.L404F

c.1212A>C

1 paper

NM_014679.5

p.V405L

c.1213G>C

1 paper

NM_014679.5

p.A403T

c.1207G>A

1 paper

NM_014679.5

p.V391I

c.1171G>A

1 paper

NM_014679.5

p.R419*

c.1255C>T

1 paper

NM_014679.5

p.R419Q

c.1256G>A

1 paper

NM_014679.5

p.E387K

c.1159G>A

1 paper

NM_014679.5

p.D377N

c.1129G>A

1 paper

NM_014679.5

p.F376Splc

c.1128-108T>A

1 paper

NM_014679.5

p.F376Splc

c.1127+103A>G

1 paper

NM_014679.5

p.M374I

c.1122G>A

1 paper

NM_014679.5

p.M374I

c.1122G>C