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

1–12 of 63 variants

3 papers

NM_145054.5

p.G435delFs

c.1304delG

2 papers

NM_145054.5

p.H25fs

c.73_74fs

2 papers

NM_145054.5

p.R369Q

c.1106G>A

2 papers

NM_145054.5

p.G435fs

c.1303_1304fs

1 paper

NM_145054.5

p.M1insFs

c.2_3insG

1 paper

NM_145054.5

p.E15D

c.45A>C

1 paper

NM_145054.5

p.E15D

c.45A>T

1 paper

NM_145054.5

p.D17G

c.50A>G

1 paper

NM_145054.5

p.H25R

c.74A>G

1 paper

NM_145054.5

p.Y41C

c.122A>G

1 paper

NM_145054.5

p.T85I

c.254C>T

1 paper

NM_001080556.2

p.D24fs

c.70_71fs