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.I943_I946del4

c.2827_2837del12

Surrounding Variants

1 paper

NM_025114.4

p.I943_I946del0

c.2829_2837del9

1 paper

NM_025114.4

p.A947delFs

c.2839delC

1 paper

NM_025114.4

p.I946_A947delFs

c.2838_2839delCA

1 paper

NM_025114.4

p.L949delFs

c.2845delG

1 paper

NM_025114.4

p.Q950*

c.2848C>T

4 papers

NM_025114.4

p.Q950fs

c.2848_2849fs

4 papers

NM_025114.4

p.Q950insFs

c.2848_2849insC

1 paper

NM_025114.4

p.E940fs

c.2818_2819fs

1 paper

NM_025114.4

p.K939_E940Splc

c.2818-1G>C

1 paper

NM_025114.4

p.D954insFs

c.2862dupT

1 paper

NM_025114.4

p.S956delFs

c.2867delC

1 paper

NM_025114.4

p.S956delFs

c.2868delA