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.E1528insFs

c.4582dupG

Surrounding Variants

1 paper

NM_025114.4

p.K1530insFs

c.4588_4589ins4

1 paper

NM_025114.4

p.E1526V

c.4577A>T

1 paper

NM_025114.4

p.E1526*

c.4576G>T

1 paper

NM_025114.4

p.T1534A

c.4600A>G

1 paper

NM_025114.4

p.L1518_I1519del2

c.4552_4556del6

1 paper

NM_025114.4

p.I1519delFs

c.4555delT

2 papers

NM_025114.4

p.I1519L

c.4555A>T

1 paper

NM_025114.4

p.I1519L

c.4555A>C

1 paper

NM_025114.4

p.L1518F

c.4552C>T

2 papers

NM_025114.4

p.E1514_R1515del2

c.4540_4544del6

1 paper

NM_025114.4

p.E1516G

c.4547A>G

1 paper

NM_025114.4

p.T1512_R1515del4

c.4534_4544del12