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

2 papers

NM_144668.6

p.D42fs

c.124_125fs

Surrounding Variants

1 paper

NM_144668.6

p.D42H

c.124G>C

1 paper

NM_144668.6

p.D42V

c.125A>T

1 paper

NM_144668.6

p.D43insFs

c.128_129insT

1 paper

NM_144668.6

p.K41delFs

c.123delA

1 paper

NM_144668.6

p.R48_E49del1

c.143_145delGAG

1 paper

NM_144668.6

p.E54D

c.162G>C

1 paper

NM_144668.6

p.E54D

c.162G>T

1 paper

NM_144668.6

p.G58delFs

c.174delC

1 paper

NM_144668.6

p.E59fs

c.175_176fs

1 paper

NM_144668.6

p.E61K

c.181G>A

2 papers

NM_144668.6

p.G62del1

c.184_186delGGG

1 paper

NM_144668.6

p.G62_E63del2

c.184_188del6