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.V603_E604insG

c.1807_1811ins3

Surrounding Variants

1 paper

NM_144668.6

p.K606K

c.1818G>A

1 paper

NM_144668.6

p.T592delFs

c.1774_1775delAC

1 paper

NM_144668.6

p.V588M

c.1762G>A

1 paper

NM_144668.6

p.A587_V588delins

c.1761_1762delinsAA

1 paper

NM_144668.6

p.I621insFs

c.1862dupT

4 papers

NM_144668.6

p.L650F

c.1948C>T

1 paper

NM_144668.6

p.P659P

c.1977C>A

1 paper

NM_144668.6

p.G661Splc

c.1981+8C>T

1 paper

NM_144668.6

p.G665R

c.1993G>A

1 paper

NM_144668.6

p.G665R

c.1993G>C

1 paper

NM_144668.6

p.F668_T669Fs

c.2002_2006delinsAGAFs

1 paper

NM_144668.6

p.G671R

c.2011G>A