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.S1595*

c.4784C>A

Surrounding Variants

1 paper

NM_025114.4

p.S1595L

c.4784C>T

1 paper

NM_025114.4

p.S1595*

c.4784C>G

1 paper

NM_025114.4

p.S1595fs

c.4783_4784fs

1 paper

NM_025114.4

p.L1596_N1597delFs

c.4786_4790del5

2 papers

NM_025114.4

p.K1598fs

c.4792_4793fs

1 paper

NM_025114.4

p.A1592T

c.4774G>A

2 papers

NM_025114.4

p.K1598fs

c.4792_4793fs

1 paper

NM_025114.4

p.Q1591H

c.4773G>C

6 papers

NM_025114.4

p.K1598_F1599delFs

c.4792_4795del4

5 papers

NM_025114.4

p.Q1591*

c.4771C>T

2 papers

NM_025114.4

p.Q1601*

c.4801C>T

2 papers

NM_025114.4

p.T1602M

c.4805C>T