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

1–12 of 2179 variants

282 papers

NM_025114.4

p.E997_C998Splc

c.2991+1655A>G

104 papers

NM_025114.4

p.C998*

c.2994T>A

77 papers

NM_025114.4

p.G1890*

c.5668G>T

56 papers

NM_025114.4

p.K1575*

c.4723A>T

31 papers

NM_025114.4

p.I556delFs

c.1666delT

27 papers

NM_025114.4

p.E1554del1

c.4660_4661delTTC

27 papers

NM_025114.4

p.Q1628*

c.4882C>T

26 papers

NM_025114.4

p.K1831delFs

c.5493delT

24 papers

NM_025114.4

p.I556fs

c.1666_1667fs

22 papers

NM_025114.4

p.R1465*

c.4393C>T

21 papers

NM_025114.4

p.Q1862_G1863Splc

c.5587-1G>C

21 papers

NM_025114.4

p.R2004Splc

c.6012-12T>A