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.Q1026*

c.3076C>T

Surrounding Variants

1 paper

NM_025114.4

p.I1024_A1027insFs

c.3072_3079dup8

1 paper

NM_025114.4

p.W1028R

c.3082T>C

1 paper

NM_025114.4

p.W1028R

c.3082T>A

1 paper

NM_025114.4

p.W1028delFs

c.3082delA

3 papers

NM_025114.4

p.W1028delFs

c.3084delC

1 paper

NM_025114.4

p.H1022R

c.3065A>G

1 paper

NM_025114.4

p.K1020insFs

c.3059dupA

1 paper

NM_025114.4

p.E1031fs

c.3091_3092fs

1 paper

NM_025114.4

p.E1031delFs

c.3092delT

1 paper

NM_025114.4

p.E1031delFs

c.3092_3093delTT

2 papers

NM_025114.4

p.K1033*

c.3097A>T

3 papers

NM_025114.4

p.E1015*

c.3043G>T