Varaico: Literature-Extracted Genetic Variants

CFAP52

46 papers

RefSeq Summary

WD repeat-containing proteins, such as WDR16, play crucial roles in a wide range of physiologic functions, including signal transduction, RNA processing, remodeling the cytoskeleton, regulation of ves...

Pfam Domains

WD40aa 54–97UCSCWD domain, G-beta repeat

WD40aa 101–141UCSCWD domain, G-beta repeat

WD40aa 406–445UCSCWD domain, G-beta repeat

WD40aa 451–489UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

cilia and flagella associated protein 52

HGNC Previous Symbol

WDR16

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_145054.5

p.S278R

c.834C>G

Surrounding Variants

1 paper

NM_145054.5

p.S278R

c.834C>A

1 paper

NM_145054.5

p.S278R

c.832A>C

1 paper

NM_145054.5

p.G271R

c.811G>A

1 paper

NM_145054.5

p.G271R

c.811G>C

1 paper

NM_145054.5

p.K260R

c.779A>G

1 paper

NM_145054.5

p.E301K

c.901G>A

1 paper

NM_145054.5

p.V307I

c.919G>A

1 paper

NM_145054.5

p.S312S

c.936G>A

1 paper

NM_145054.5

p.R316H

c.947G>A

1 paper

NM_001080556.2

p.V271I

c.811G>A

1 paper

NM_145054.5

p.G212_V213Splc

c.636+3A>T

1 paper

NM_145054.5

p.S210R

c.630T>A