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

56 papers

NM_025114.4

p.K1575*

c.4723A>T

Surrounding Variants

9 papers

NM_025114.4

p.E1578*

c.4732G>T

4 papers

NM_025114.4

p.E1572*

c.4714G>T

1 paper

NM_025114.4

p.R1571K

c.4712G>A

1 paper

NM_025114.4

p.E1579*

c.4735G>T

2 papers

NM_025114.4

p.L1581F

c.4741C>T

11 papers

NM_025114.4

p.E1568_E1569Splc

c.4705-1G>T

1 paper

NM_025114.4

p.H1585R

c.4754A>G

1 paper

NM_025114.4

p.H1586R

c.4757A>G

1 paper

NM_025114.4

p.L1584_R1587del4

c.4750_4760del12

5 papers

NM_025114.4

p.Q1591*

c.4771C>T

1 paper

NM_025114.4

p.Q1591H

c.4773G>C

1 paper

NM_025114.4

p.A1592T

c.4774G>A