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.G62R

c.184G>A

Surrounding Variants

2 papers

NM_144668.6

p.G62R

c.184G>C

2 papers

NM_144668.6

p.G62del1

c.184_186delGGG

1 paper

NM_144668.6

p.G62_E63del2

c.184_188del6

1 paper

NM_144668.6

p.G62E

c.185G>A

1 paper

NM_144668.6

p.G62_E63ins4

c.186_187ins12

1 paper

NM_144668.6

p.E65ins5

c.194_195ins15

12 papers

NM_144668.6

p.G66ins5

c.196_197ins15

1 paper

NM_144668.6

p.E61K

c.181G>A

1 paper

NM_144668.6

p.E64E

c.192G>A

1 paper

NM_144668.6

p.E59fs

c.175_176fs

1 paper

NM_144668.6

p.E65D

c.195G>T

1 paper

NM_144668.6

p.G58delFs

c.174delC