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.V1007_E1008del2

c.3019_3023del6

Surrounding Variants

1 paper

NM_025114.4

p.Q1006_V1007del2

c.3016_3020del6

1 paper

NM_025114.4

p.V1007G

c.3020T>G

1 paper

NM_025114.4

p.I1010insFs

c.3029_3030dupTA

1 paper

NM_025114.4

p.S1009_I1010delFs

c.3027_3028delTA

1 paper

NM_025114.4

p.K1012Q

c.3034A>C

1 paper

NM_025114.4

p.E1005E

c.3015A>G

1 paper

NM_025114.4

p.K1004insFs

c.3010dupA

5 papers

NM_025114.4

p.K1004delFs

c.3012delT

3 papers

NM_025114.4

p.E1005fs

c.3013_3014fs

1 paper

NM_025114.4

p.E1013A

c.3038A>C

2 papers

NM_025114.4

p.K1004fs

c.3010_3011fs

1 paper

NM_025114.4

p.E1013_L1014delFs

c.3039_3040delGT