Varaico: Literature-Extracted Genetic Variants

CFAP251

126 papers

RefSeq Summary

This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family ...

Pfam Domains

WD40aa 289–329UCSCWD domain, G-beta repeat

WD40aa 596–634UCSCWD domain, G-beta repeat

WD40aa 881–920UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

cilia and flagella associated protein 251

HGNC Previous Symbol

WDR66

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_144668.6

p.L228ins1

c.683_684insATC

Surrounding Variants

1 paper

NM_144668.6

p.V229L

c.685G>C

1 paper

NM_144668.6

p.V229L

c.685G>T

1 paper

NM_144668.6

p.S227insFs

c.680dupC

1 paper

NM_144668.6

p.S231_T232del2

c.691_695del6

1 paper

NM_144668.6

p.S224F

c.671C>T

1 paper

NM_144668.6

p.T233T

c.699A>C

1 paper

NM_144668.6

p.G222E

c.665G>A

1 paper

NM_144668.6

p.K220E

c.658A>G

1 paper

NM_144668.6

p.Q218*

c.652C>T

1 paper

NM_144668.6

p.Q239insFs

c.715dupC

1 paper

NM_144668.6

p.Q239*

c.715C>T

1 paper

NM_144668.6

p.P248P

c.744C>G