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

1 paper

NM_014679.5

p.K334K

c.1002G>A

Surrounding Variants

1 paper

NM_014679.5

p.Q335Fs

c.1003delinsGAFs

1 paper

NM_014679.5

p.Q335fs

c.1003_1004fs

1 paper

NM_014679.5

p.R339G

c.1015C>G

1 paper

NM_014679.5

p.R339*

c.1015C>T

2 papers

NM_014679.5

p.S329G

c.985A>G

1 paper

NM_014679.5

p.S343R

c.1027A>C

1 paper

NM_014679.5

p.S343R

c.1029T>A

1 paper

NM_014679.5

p.S343R

c.1029T>G

2 papers

NM_014679.5

p.R325*

c.973C>T

1 paper

NM_014679.5

p.T349I

c.1046C>T

1 paper

NM_014679.5

p.A320insFs

c.959dupC

1 paper

NM_014679.5

p.H317fs

c.949_950fs