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

4 papers

NM_144668.6

p.V870L

c.2608G>C

Surrounding Variants

4 papers

NM_144668.6

p.V870L

c.2608G>T

1 paper

NM_144668.6

p.L875L

c.2623T>C

1 paper

NM_144668.6

p.V877D

c.2630T>A

1 paper

NM_144668.6

p.D878E

c.2634C>A

1 paper

NM_144668.6

p.D878E

c.2634C>G

1 paper

NM_144668.6

p.C904Y

c.2711G>A

1 paper

NM_144668.6

p.G911G

c.2733G>A

1 paper

NM_144668.6

p.H912delFs

c.2734delC

1 paper

NM_144668.6

p.R914C

c.2740C>T

1 paper

NM_144668.6

p.S924R

c.2770A>C

1 paper

NM_144668.6

p.S924R

c.2772T>A

1 paper

NM_144668.6

p.S924R

c.2772T>G