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.F376Splc

c.1127+103A>G

Surrounding Variants

1 paper

NM_014679.5

p.M374I

c.1122G>A

1 paper

NM_014679.5

p.M374I

c.1122G>C

1 paper

NM_014679.5

p.M374I

c.1122G>T

1 paper

NM_014679.5

p.Q365E

c.1093C>G

1 paper

NM_014679.5

p.S361*

c.1082C>A

1 paper

NM_014679.5

p.S361*

c.1082C>G

1 paper

NM_014679.5

p.T349I

c.1046C>T

1 paper

NM_014679.5

p.S343R

c.1029T>A

1 paper

NM_014679.5

p.S343R

c.1029T>G

1 paper

NM_014679.5

p.S343R

c.1027A>C

1 paper

NM_014679.5

p.R339G

c.1015C>G

1 paper

NM_014679.5

p.R339*

c.1015C>T