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.M1607insFs

c.4819dupA

Surrounding Variants

1 paper

NM_025114.4

p.M1607fs

c.4819_4820fs

1 paper

NM_025114.4

p.L1606_M1607insTGT

c.4816_4820ins9

1 paper

NM_025114.4

p.D1605E

c.4815T>A

2 papers

NM_025114.4

p.W1604_D1605Splc

c.4813-1G>A

1 paper

NM_025114.4

p.T1612fs

c.4834_4835fs

1 paper

NM_025114.4

p.T1612delFs

c.4834_4835delGT

1 paper

NM_025114.4

p.T1616insFs

c.4846_4847insT

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.R1622H

c.4865G>A

1 paper

NM_025114.4

p.R1622Fs

c.4864_4865delinsTFs

1 paper

NM_025114.4

p.M1626T

c.4877T>C