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.Q155K

c.463C>A

Surrounding Variants

1 paper

NM_144668.6

p.E147E

c.441G>A

1 paper

NM_144668.6

p.E167K

c.499G>A

1 paper

NM_144668.6

p.E167Q

c.499G>C

1 paper

NM_144668.6

p.A143_T145del3

c.427_434del9

1 paper

NM_144668.6

p.Q139*

c.415C>T

1 paper

NM_144668.6

p.S173fs

c.517_518fs

1 paper

NM_144668.6

p.R130T

c.389G>C

1 paper

NM_144668.6

p.L182insFs

c.545dupT

1 paper

NM_144668.6

p.L182F

c.544C>T

1 paper

NM_144668.6

p.K127delFs

c.381delA

1 paper

NM_144668.6

p.E184_T186del3

c.550_557del9

1 paper

NM_144668.6

p.K185_D187del3

c.553_560del9