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

21 papers

NM_025114.4

p.R2004Splc

c.6012-12T>A

Surrounding Variants

8 papers

NM_025114.4

p.R2004Splc

c.6012-2A>G

2 papers

NM_025114.4

p.R2004S

c.6012G>T

2 papers

NM_025114.4

p.R2004S

c.6012G>C

1 paper

NM_025114.4

p.A2005fs

c.6013_6014fs

1 paper

NM_025114.4

p.A2005delFs

c.6013delC

1 paper

NM_025114.4

p.A2005_H2006del2

c.6013_6017del6

7 papers

NM_025114.4

p.R2011*

c.6031C>T

1 paper

NM_025114.4

p.A2008_D2017del10

c.6022_6050del30

1 paper

NM_025114.4

p.Y2024H

c.6070T>C

6 papers

NM_025114.4

p.Y2024*

c.6072C>G

6 papers

NM_025114.4

p.Y2024*

c.6072C>A

1 paper

NM_025114.4

p.E2027fs

c.6079_6080fs