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.G16insFs

c.46_47insT

Surrounding Variants

1 paper

NM_144668.6

p.K21delFs

c.62delA

1 paper

NM_144668.6

p.K21delFs

c.62_63delAA

1 paper

NM_144668.6

p.A11T

c.31G>A

2 papers

NM_144668.6

p.R9*

c.25C>T

1 paper

NM_144668.6

p.M1T

c.2T>C

1 paper

NM_144668.6

p.M1insFs

c.3dupG

1 paper

NM_144668.6

p.M1insFs

c.2dupT

1 paper

NM_144668.6

p.M1delFs

c.2delT

1 paper

NM_144668.6

p.K41delFs

c.123delA

1 paper

NM_144668.6

p.D42H

c.124G>C

2 papers

NM_144668.6

p.D42fs

c.124_125fs

1 paper

NM_144668.6

p.D42V

c.125A>T