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.M189K

c.566T>A

Surrounding Variants

2 papers

NM_144668.6

p.R188W

c.562C>T

1 paper

NM_144668.6

p.T186_D187ins12

c.556_560ins36

8 papers

NM_144668.6

p.T186_D187ins15

c.556_560ins45

1 paper

NM_144668.6

p.L194_G195ins15

c.580_584ins45

1 paper

NM_144668.6

p.K185_D187del3

c.553_560del9

1 paper

NM_144668.6

p.E184_T186del3

c.550_557del9

1 paper

NM_144668.6

p.G195delFs

c.585delA

4 papers

NM_144668.6

p.Q196_E197ins15

c.586_590ins45

2 papers

NM_144668.6

p.Q196*

c.586C>T

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.E197K

c.589G>A