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

Selected Variant

1 paper

NM_144574.4

p.P428S

c.1282C>T

Surrounding Variants

1 paper

NM_144574.4

p.P421S

c.1261C>T

1 paper

NM_144574.4

p.P410L

c.1229C>T

2 papers

NM_144574.4

p.H400R

c.1199A>G

1 paper

NM_144574.4

p.S459I

c.1376G>T

1 paper

NM_144574.4

p.K460T

c.1379A>C

2 papers

NM_144574.4

p.Q392*

c.1174C>T

1 paper

NM_144574.4

p.I387insFs

c.1159dupA

1 paper

NM_144574.4

p.E471_R472delFs

c.1411_1414del4

1 paper

NM_144574.4

p.W381L

c.1142G>T

1 paper

NM_144574.4

p.E475D

c.1425G>C

1 paper

NM_144574.4

p.E475D

c.1425G>T

1 paper

NM_144574.4

p.K479E

c.1435A>G