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.Q968*

c.2902C>T

Surrounding Variants

1 paper

NM_025114.4

p.N966_K967delFs

c.2898_2899delTA

3 papers

NM_025114.4

p.Y969*

c.2907C>G

2 papers

NM_025114.4

p.Y969insFs

c.2906dupA

3 papers

NM_025114.4

p.Y969*

c.2907C>A

1 paper

NM_025114.4

p.L964_A965delFs

c.2892_2893delCC

4 papers

NM_025114.4

p.L972P

c.2915T>C

1 paper

NM_025114.4

p.E963G

c.2888A>G

1 paper

NM_025114.4

p.E963*

c.2887G>T

1 paper

NM_025114.4

p.S960F

c.2879C>T

1 paper

NM_025114.4

p.V957_S958del2

c.2869_2873del6

2 papers

NM_025114.4

p.R977G

c.2929A>G

1 paper

NM_025114.4

p.R977M

c.2930G>T