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

2 papers

NM_025114.4

p.E1554_V1555del2

c.4660_4664del6

Surrounding Variants

1 paper

NM_025114.4

p.L1556fs

c.4666_4667fs

27 papers

NM_025114.4

p.E1554del1

c.4660_4661delTTC

2 papers

NM_025114.4

p.E1553fs

c.4657_4658fs

3 papers

NM_025114.4

p.K1552delFs

c.4656delT

2 papers

NM_025114.4

p.K1552fs

c.4654_4655fs

1 paper

NM_025114.4

p.Y1559*

c.4677T>G

1 paper

NM_025114.4

p.Y1559*

c.4677T>A

1 paper

NM_025114.4

p.Y1559delFs

c.4676delT

1 paper

NM_025114.4

p.L1556_Y1559delFs

c.4667_4677del11

1 paper

NM_025114.4

p.Q1551*

c.4651C>T

1 paper

NM_025114.4

p.R1561P

c.4682G>C

1 paper

NM_025114.4

p.R1561H

c.4682G>A