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

5 papers

NM_014679.5

p.Q111H

c.333G>C

Surrounding Variants

5 papers

NM_014679.5

p.Q111H

c.333G>T

1 paper

NM_014679.5

p.E114G

c.341A>G

1 paper

NM_014679.5

p.Y104*

c.312T>A

2 papers

NM_014679.5

p.Y104*

c.312T>G

1 paper

NM_014679.5

p.N126I

c.377A>T

2 papers

NM_014679.5

p.E128Splc

c.382+2T>C

8 papers

NM_014679.5

p.R81*

c.241C>T

1 paper

NM_014679.5

p.K79fs

c.235_236fs

1 paper

NM_014679.5

p.K79_I80delFs

c.236_239del4

1 paper

NM_014679.5

p.Q77E

c.229C>G

1 paper

NM_014679.5

p.R151*

c.451C>T

1 paper

NM_014679.5

p.R151Q

c.452G>A