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.R30P

c.89G>C

Surrounding Variants

1 paper

NM_014679.5

p.R30W

c.88C>T

1 paper

NM_014679.5

p.P40A

c.118C>G

1 paper

NM_014679.5

p.S41L

c.122C>T

2 papers

NM_014679.5

p.D49N

c.145G>A

4 papers

NM_014679.5

p.R52C

c.154C>T

1 paper

NM_014679.5

p.S15_N16Splc

c.46-3669G>T

1 paper

NM_014679.5

p.A8E

c.23C>A

1 paper

NM_014679.5

p.S7F

c.20C>T

1 paper

NM_014679.5

p.M1_A2insFs

c.3_4insA