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.N1667_I1668insA

c.4999_5003ins3

Surrounding Variants

1 paper

NM_025114.4

p.F1665_E1666del2

c.4993_4997del6

1 paper

NM_025114.4

p.E1666delFs

c.4996_4997delTC

1 paper

NM_025114.4

p.E1666_N1667insA

c.4996_5000ins3

1 paper

NM_025114.4

p.E1664insFs

c.4991_4992ins4

1 paper

NM_025114.4

p.E1664*

c.4990G>T

1 paper

NM_025114.4

p.K1663insFs

c.4989dupA

1 paper

NM_025114.4

p.E1664fs

c.4990_4991fs

2 papers

NM_025114.4

p.Q1671*

c.5011C>T

1 paper

NM_025114.4

p.Q1671Splc

c.5012+1G>A

1 paper

NM_025114.4

p.Q1671Splc

c.5012+2T>C

1 paper

NM_025114.4

p.Q1671Splc

c.5012+10C>T

1 paper

NM_025114.4

p.E1656fs

c.4966_4967fs