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.D1848G

c.5543A>G

Surrounding Variants

1 paper

NM_025114.4

p.K1840_E1846delFs

c.5519_5537del19

1 paper

NM_025114.4

p.Q1853*

c.5557C>T

1 paper

NM_025114.4

p.K1840fs

c.5518_5519fs

1 paper

NM_025114.4

p.R1856I

c.5567G>T

1 paper

NM_025114.4

p.K1855insFs

c.5563_5564insA

5 papers

NM_025114.4

p.E1839_K1840delFs

c.5515_5518del4

2 papers

NM_025114.4

p.E1839fs

c.5515_5516fs

1 paper

NM_025114.4

p.E1839fs

c.5515_5516fs

1 paper

NM_025114.4

p.R1838G

c.5512A>G

1 paper

NM_025114.4

p.S1859R

c.5575A>C

1 paper

NM_025114.4

p.K1855_T1858del4

c.5563_5573del12

1 paper

NM_025114.4

p.S1859delFs

c.5576delC