Varaico: Literature-Extracted Genetic Variants

WDR20

101 papers

RefSeq Summary

This gene encodes a WD repeat-containing protein that functions to preserve and regulate the activity of the USP12-UAF1 deubiquitinating enzyme complex. Multiple alternatively spliced transcript varia...

Pfam Domains

WD40aa 212–248UCSCWD domain, G-beta repeat

WD40aa 253–290UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

WD repeat domain 20

HGNC Alias Symbols

DMR; MGC33177; FLJ33659; Bun107

Papers

RefSeq ID

Protein change

DNA change

1–12 of 53 variants

2 papers

NM_144574.4

p.P230S

c.688C>T

2 papers

NM_144574.4

p.Q392*

c.1174C>T

2 papers

NM_144574.4

p.H400R

c.1199A>G

1 paper

NM_144574.4

p.M1R

c.2T>G

1 paper

NM_144574.4

p.T3R

c.8C>G

1 paper

NM_144574.4

p.E21K

c.61G>A

1 paper

NM_144574.4

p.P28Q

c.83C>A

1 paper

NM_144574.4

p.R34W

c.100C>T

1 paper

NM_144574.4

p.N41K

c.123C>A

1 paper

NM_144574.4

p.N41N

c.123C>T

1 paper

NM_144574.4

p.S45P

c.133T>C

1 paper

NM_144574.4

p.S45Y

c.134C>A