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

4 papers

NM_025114.4

p.D2039G

c.6116A>G

Surrounding Variants

1 paper

NM_025114.4

p.D2039fs

c.6115_6116fs

1 paper

NM_025114.4

p.S2037delFs

c.6109delA

1 paper

NM_025114.4

p.T2040_Y2041Fs

c.6119_6123delinsTATGTAFs

1 paper

NM_025114.4

p.Q2035delFs

c.6103_6104delTG

1 paper

NM_025114.4

p.Q2035fs

c.6103_6104fs

1 paper

NM_025114.4

p.S2045L

c.6134C>T

2 papers

NM_025114.4

p.S2045_I2046Splc

c.6135+1G>A

1 paper

NM_025114.4

p.S2045_I2046Splc

c.6135+4A>G

1 paper

NM_025114.4

p.H2030Y

c.6088C>T

1 paper

NM_025114.4

p.E2027delFs

c.6079delC

1 paper

NM_025114.4

p.E2027fs

c.6079_6080fs

6 papers

NM_025114.4

p.Y2024*

c.6072C>G