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.T85I

c.254C>T

Surrounding Variants

1 paper

NM_145054.5

p.Y41C

c.122A>G

1 paper

NM_145054.5

p.H25R

c.74A>G

2 papers

NM_145054.5

p.H25fs

c.73_74fs

1 paper

NM_001080556.2

p.D24fs

c.70_71fs

1 paper

NM_145054.5

p.E102Q

c.304G>C

1 paper

NM_001080556.2

p.S68I

c.203G>T

NM_145054.5

p.S136I

c.407G>T

1 paper

NM_145054.5

p.I142L

c.424A>T

1 paper

NM_145054.5

p.A153V

c.458C>T

1 paper

NM_145054.5

p.G155S

c.463G>A

1 paper

NM_145054.5

p.R170Q

c.509G>A

1 paper

NM_145054.5

p.N179Splc

c.536+1G>T

1 paper

NM_145054.5

p.D17G

c.50A>G