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.K982_Q988delFs

c.2945_2964del20

Surrounding Variants

1 paper

NM_025114.4

p.Q988_R989delFs

c.2964_2965delTT

1 paper

NM_025114.4

p.R989delFs

c.2966delC

1 paper

NM_025114.4

p.Q988Q

c.2964A>G

1 paper

NM_025114.4

p.Q988P

c.2963A>C

1 paper

NM_025114.4

p.Q988*

c.2962C>T

1 paper

NM_025114.4

p.L980_V987insFs

c.2938_2959dup22

1 paper

NM_025114.4

p.S991delFs

c.2971delT

1 paper

NM_025114.4

p.V987fs

c.2959_2960fs

1 paper

NM_025114.4

p.L986delFs

c.2958delA

1 paper

NM_025114.4

p.M985fs

c.2953_2954fs

3 papers

NM_025114.4

p.M985delFs

c.2954delA

1 paper

NM_025114.4

p.I979_M985delFs

c.2937_2953del17