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.V1642V

c.4926C>G

Surrounding Variants

1 paper

NM_025114.4

p.K1643delFs

c.4929delT

1 paper

NM_025114.4

p.S1638F

c.4913C>T

1 paper

NM_025114.4

p.Q1649*

c.4945C>T

1 paper

NM_025114.4

p.L1651delFs

c.4952delA

1 paper

NM_025114.4

p.E1652*

c.4954G>T

4 papers

NM_025114.4

p.Q1633*

c.4897C>T

1 paper

NM_025114.4

p.D1650_L1651del2

c.4948_4952del6

2 papers

NM_025114.4

p.Q1654*

c.4960C>T

1 paper

NM_025114.4

p.Q1654fs

c.4960_4961fs

2 papers

NM_025114.4

p.Q1654delFs

c.4961delT

15 papers

NM_025114.4

p.Q1654_R1655delFs

c.4962_4963delTT

1 paper

NM_025114.4

p.R1655fs

c.4963_4964fs