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.G571R

c.1711G>A

Surrounding Variants

6 papers

NM_025114.4

p.G571Splc

c.1711+1G>A

9 papers

NM_025114.4

p.S570*

c.1709C>G

9 papers

NM_025114.4

p.S570*

c.1709C>A

1 paper

NM_025114.4

p.G571Splc

c.1711+5A>G

1 paper

NM_025114.4

p.R566delFs

c.1697_1698delTC

1 paper

NM_025114.4

p.G564_K565del2

c.1690_1694del6

1 paper

NM_025114.4

p.R563_G564del2

c.1687_1691del6

1 paper

NM_025114.4

p.E562delFs

c.1685_1686delTT

1 paper

NM_025114.4

p.Q561_E562delFs

c.1682_1686del5

1 paper

NM_025114.4

p.R563*

c.1687A>T

1 paper

NM_025114.4

p.E562fs

c.1684_1685fs

1 paper

NM_025114.4

p.Q561delFs

c.1683delT