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

2 papers

NM_025114.4

p.E1803D

c.5409A>C

Surrounding Variants

2 papers

NM_025114.4

p.E1803D

c.5409A>T

1 paper

NM_025114.4

p.E1803K

c.5407G>A

2 papers

NM_025114.4

p.N1810H

c.5428A>C

2 papers

NM_025114.4

p.N1810fs

c.5428_5429fs

1 paper

NM_025114.4

p.R1811del1

c.5431_5433delTCT

2 papers

NM_025114.4

p.E1812fs

c.5434_5435fs

2 papers

NM_025114.4

p.E1812delFs

c.5434_5435delTC

1 paper

NM_025114.4

p.T1816S

c.5446A>T

1 paper

NM_025114.4

p.T1816S

c.5447C>G

3 papers

NM_025114.4

p.Q1790*

c.5368C>T

2 papers

NM_025114.4

p.L1826P

c.5477T>C

2 papers

NM_025114.4

p.Q1830fs

c.5488_5489fs