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

22 papers

NM_025114.4

p.R1465*

c.4393C>T

Surrounding Variants

1 paper

NM_025114.4

p.R1465Q

c.4394G>A

1 paper

NM_025114.4

p.R1471fs

c.4411_4412fs

1 paper

NM_025114.4

p.T1470insFs

c.4410dupA

1 paper

NM_025114.4

p.A1456T

c.4366G>A

1 paper

NM_025114.4

p.L1453_E1454insA

c.4357_4361ins3

2 papers

NM_025114.4

p.P1450_Q1452delFs

c.4350_4356del7

1 paper

NM_025114.4

p.S1441_N1451del11

c.4321_4352del33

2 papers

NM_025114.4

p.E1479_K1480Splc

c.4437+1G>A

1 paper

NM_025114.4

p.P1448_L1449ins4

c.4342_4346ins12

1 paper

NM_025114.4

p.I1442I

c.4326C>A

1 paper

NM_025114.4

p.S1441insFs

c.4323dupA

1 paper

NM_025114.4

p.I1442T

c.4325T>C