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.R977M

c.2930G>T

Surrounding Variants

2 papers

NM_025114.4

p.R977G

c.2929A>G

1 paper

NM_025114.4

p.I979delFs

c.2935delT

1 paper

NM_025114.4

p.Q981delFs

c.2941delG

1 paper

NM_025114.4

p.Q981fs

c.2941_2942fs

4 papers

NM_025114.4

p.L972P

c.2915T>C

1 paper

NM_025114.4

p.I979_K982delFs

c.2935_2944del10

1 paper

NM_025114.4

p.Q981delFs

c.2943delT

2 papers

NM_025114.4

p.M985fs

c.2953_2954fs

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.I979_M985delFs

c.2937_2953del17