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.L217P

c.650T>C

Surrounding Variants

1 paper

NM_014679.5

p.H218Y

c.652C>T

1 paper

NM_014679.5

p.E221insFs

c.661dupG

1 paper

NM_014679.5

p.M227delFs

c.679delA

2 papers

NM_014679.5

p.A231V

c.692C>T

1 paper

NM_014679.5

p.E207_K208Splc

c.621+11G>T

1 paper

NM_014679.5

p.Q203*

c.607C>T

1 paper

NM_014679.5

p.K198T

c.593A>C

3 papers

NM_014679.5

p.L191H

c.572T>A

1 paper

NM_014679.5

p.K188N

c.564A>C

1 paper

NM_014679.5

p.K188N

c.564A>T

1 paper

NM_014679.5

p.R175Q

c.524G>A

1 paper

NM_014679.5

p.R175*

c.523C>T