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.R592H

c.1775G>A

Surrounding Variants

1 paper

NM_145054.5

p.T591I

c.1772C>T

1 paper

NM_145054.5

p.V579A

c.1736T>C

1 paper

NM_145054.5

p.V579L

c.1735G>C

1 paper

NM_145054.5

p.V579L

c.1735G>T

1 paper

NM_145054.5

p.R613Q

c.1838G>A

1 paper

NM_145054.5

p.G542D

c.1625G>A

1 paper

NM_145054.5

p.P512T

c.1534C>A

1 paper

NM_145054.5

p.Q506R

c.1517A>G

1 paper

NM_145054.5

p.N502T

c.1505A>C

1 paper

NM_145054.5

p.D482N

c.1444G>A

1 paper

NM_001080556.2

p.W376*

c.1128G>A

NM_145054.5

p.W444*

c.1332G>A

1 paper

NM_001080556.2

p.W376*

c.1127G>A

NM_145054.5

p.W444*

c.1331G>A