Varaico: Literature-Extracted Genetic Variants

CEP290

1,004 papers

RefSeq Summary

This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP bindin...

Pfam Domains

CEP209_CC5aa 1289–1416UCSCCoiled-coil region of centrosome protein CE290

Gene Aliases

HGNC Name

centrosomal protein 290

HGNC Alias Symbols

KIAA0373; FLJ13615; 3H11Ag; rd16; NPHP6; JBTS5; SLSN6; LCA10; MKS4; BBS14; CT87; POC3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_025114.4

p.D954insFs

c.2862dupT

Surrounding Variants

1 paper

NM_025114.4

p.S956delFs

c.2867delC

1 paper

NM_025114.4

p.S956delFs

c.2868delA

1 paper

NM_025114.4

p.K951_S956del6

c.2851_2867del18

1 paper

NM_025114.4

p.V957A

c.2870T>C

1 paper

NM_025114.4

p.S958F

c.2873C>T

1 paper

NM_025114.4

p.V957_S958del2

c.2869_2873del6

4 papers

NM_025114.4

p.Q950insFs

c.2848_2849insC

1 paper

NM_025114.4

p.Q950*

c.2848C>T

4 papers

NM_025114.4

p.Q950fs

c.2848_2849fs

1 paper

NM_025114.4

p.S960F

c.2879C>T

1 paper

NM_025114.4

p.L949delFs

c.2845delG

1 paper

NM_025114.4

p.A947delFs

c.2839delC