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.Q558*

c.1672C>T

Surrounding Variants

5 papers

NM_025114.4

p.R557H

c.1670G>A

1 paper

NM_025114.4

p.R557C

c.1669C>T

1 paper

NM_025114.4

p.M559L

c.1675A>T

11 papers

NM_025114.4

p.I556fs

c.1666_1667fs

1 paper

NM_025114.4

p.M559T

c.1676T>C

19 papers

NM_025114.4

p.I556insFs

c.1666dupA

31 papers

NM_025114.4

p.I556delFs

c.1666delT

2 papers

NM_025114.4

p.K555_I556delFs

c.1665_1666delTT

1 paper

NM_025114.4

p.M559I

c.1677G>T

1 paper

NM_025114.4

p.M559I

c.1677G>C

1 paper

NM_025114.4

p.M559I

c.1677G>A

24 papers

NM_025114.4

p.I556fs

c.1666_1667fs