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.R1498_D1499del2

c.4492_4496del6

Surrounding Variants

7 papers

NM_025114.4

p.R1508*

c.4522C>T

3 papers

NM_025114.4

p.E1492*

c.4474G>T

1 paper

NM_025114.4

p.L1490L

c.4468T>C

1 paper

NM_025114.4

p.T1512I

c.4535C>T

2 papers

NM_025114.4

p.L1488L

c.4462T>C

1 paper

NM_025114.4

p.A1513insFs

c.4537dupG

7 papers

NM_025114.4

p.K1484_E1485delFs

c.4452_4455del4

1 paper

NM_025114.4

p.A1511_E1514del4

c.4531_4541del12

1 paper

NM_025114.4

p.K1484delFs

c.4451_4452delTT

1 paper

NM_025114.4

p.T1512_R1515del4

c.4534_4544del12

1 paper

NM_025114.4

p.E1516G

c.4547A>G

6 papers

NM_025114.4

p.K1484fs

c.4450_4451fs