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

27 papers

NM_025114.4

p.Q1628*

c.4882C>T

Surrounding Variants

1 paper

NM_025114.4

p.E1627_Q1628delFs

c.4881_4882delGT

1 paper

NM_025114.4

p.M1626T

c.4877T>C

4 papers

NM_025114.4

p.Q1633*

c.4897C>T

1 paper

NM_025114.4

p.R1622H

c.4865G>A

1 paper

NM_025114.4

p.R1622Fs

c.4864_4865delinsTFs

2 papers

NM_025114.4

p.R1622fs

c.4864_4865fs

1 paper

NM_025114.4

p.R1622C

c.4864C>T

1 paper

NM_025114.4

p.S1638F

c.4913C>T

1 paper

NM_025114.4

p.T1616insFs

c.4846_4847insT

1 paper

NM_025114.4

p.V1642V

c.4926C>G

1 paper

NM_025114.4

p.T1612delFs

c.4834_4835delGT

1 paper

NM_025114.4

p.T1612fs

c.4834_4835fs