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

2 papers

NM_145054.5

p.G435fs

c.1303_1304fs

Surrounding Variants

3 papers

NM_145054.5

p.G435delFs

c.1304delG

1 paper

NM_145054.5

p.G435delFs

c.1303_1304delGG

1 paper

NM_145054.5

p.R431S

c.1293G>C

1 paper

NM_145054.5

p.R431S

c.1293G>T

1 paper

NM_145054.5

p.A424T

c.1270G>A

1 paper

NM_145054.5

p.G419D

c.1256G>A

1 paper

NM_145054.5

p.N414S

c.1241A>G

1 paper

NM_145054.5

p.R407*

c.1219C>T

1 paper

NM_001080556.2

p.W376*

c.1127G>A

NM_145054.5

p.W444*

c.1331G>A

1 paper

NM_001080556.2

p.W376*

c.1128G>A

NM_145054.5

p.W444*

c.1332G>A

1 paper

NM_145054.5

p.D482N

c.1444G>A

2 papers

NM_145054.5

p.R369Q

c.1106G>A