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

5 papers

NM_144668.6

p.E111*

c.331G>T

Surrounding Variants

1 paper

NM_144668.6

p.T112delFs

c.335_336delCA

1 paper

NM_144668.6

p.R109R

c.327T>A

1 paper

NM_144668.6

p.Q118*

c.352C>T

1 paper

NM_144668.6

p.G123R

c.367G>A

1 paper

NM_144668.6

p.G123G

c.369A>G

1 paper

NM_144668.6

p.G91_I92Fs

c.272_275delinsAGGFs

1 paper

NM_144668.6

p.S90L

c.269C>T

1 paper

NM_144668.6

p.A89V

c.266C>T

1 paper

NM_144668.6

p.K80K

c.240G>A

1 paper

NM_144668.6

p.T77_E78delFs

c.231_232delTG

1 paper

NM_144668.6

p.T77A

c.229A>G

1 paper

NM_144668.6

p.E76K

c.226G>A