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

1–12 of 93 variants

10 papers

NM_014679.5

p.A305_L309insFs

c.915_925dup11

8 papers

NM_014679.5

p.R81*

c.241C>T

7 papers

NM_014679.5

p.E174delFs

c.520_521delGA

5 papers

NM_014679.5

p.Q111H

c.333G>C

5 papers

NM_014679.5

p.Q111H

c.333G>T

4 papers

NM_014679.5

p.R52C

c.154C>T

4 papers

NM_014679.5

p.L309fs

c.925_926fs

3 papers

NM_014679.5

p.L191H

c.572T>A

3 papers

NM_014679.5

p.R448G

c.1342A>G

2 papers

NM_014679.5

p.R30P

c.89G>C

2 papers

NM_014679.5

p.D49N

c.145G>A

2 papers

NM_014679.5

p.Y104*

c.312T>G