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.K1903_N1904Splc

c.5709+25A>C

Surrounding Variants

4 papers

NM_025114.4

p.K1903_N1904Splc

c.5709+2T>G

4 papers

NM_025114.4

p.E1902*

c.5704G>T

1 paper

NM_025114.4

p.V1895L

c.5683G>T

1 paper

NM_025114.4

p.V1892L

c.5674G>T

1 paper

NM_025114.4

p.L1884_K1891del0

c.5651_5671del21

77 papers

NM_025114.4

p.G1890*

c.5668G>T

1 paper

NM_025114.4

p.E1889delFs

c.5666delT

1 paper

NM_025114.4

p.E1889fs

c.5665_5666fs

3 papers

NM_025114.4

p.L1884fs

c.5650_5651fs

9 papers

NM_025114.4

p.K1883insFs

c.5649dupA

1 paper

NM_025114.4

p.L1884fs

c.5650_5651fs

2 papers

NM_025114.4

p.Q1871_S1872delFs

c.5611_5614del4