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

3 papers

NM_025114.4

p.K1864_P1865del2

c.5590_5594del6

Surrounding Variants

6 papers

NM_025114.4

p.D1868V

c.5603A>T

21 papers

NM_025114.4

p.Q1862_G1863Splc

c.5587-1G>C

1 paper

NM_025114.4

p.Q1862_G1863Splc

c.5587-1G>A

1 paper

NM_025114.4

p.K1870fs

c.5608_5609fs

2 papers

NM_025114.4

p.K1870fs

c.5608_5609fs

1 paper

NM_025114.4

p.K1870delFs

c.5610delT

2 papers

NM_025114.4

p.Q1871fs

c.5611_5612fs

2 papers

NM_025114.4

p.Q1871fs

c.5611_5612fs

2 papers

NM_025114.4

p.Q1871_S1872delFs

c.5611_5614del4

1 paper

NM_025114.4

p.D1868_Q1871delFs

c.5603_5613del11

9 papers

NM_025114.4

p.K1883insFs

c.5649dupA

1 paper

NM_025114.4

p.L1884fs

c.5650_5651fs