Varaico: Literature-Extracted Genetic Variants

DCAF11

44 papers

RefSeq Summary

This gene encodes a WD repeat-containing protein that interacts with the COP9 signalosome, a macromolecular complex that interacts with cullin-RING E3 ligases and regulates their activity by hydrolyzi...

Pfam Domains

WD40aa 171–200UCSCWD domain, G-beta repeat

WD40aa 297–336UCSCWD domain, G-beta repeat

WD40aa 345–383UCSCWD domain, G-beta repeat

WD40aa 473–511UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

DDB1 and CUL4 associated factor 11

HGNC Previous Symbol

WDR23

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_025230.5

p.G282E

c.845G>A

Surrounding Variants

1 paper

NM_025230.5

p.R265H

c.794G>A

1 paper

NM_025230.5

p.R265C

c.793C>T

1 paper

NM_025230.5

p.N285S

c.854A>G

1 paper

NM_025230.5

p.Q296P

c.887A>C

5 papers

NM_025230.5

p.N297H

c.889A>C

1 paper

NM_025230.5

p.R299C

c.895C>T

1 paper

NM_025230.5

p.R299R

c.897C>G

1 paper

NM_025230.5

p.L259F

c.775C>T

1 paper

NM_025230.5

p.Y248H

c.742T>C

1 paper

NM_025230.5

p.H306Y

c.916C>T

3 papers

NM_025230.5

p.C332Y

c.995G>A

1 paper

NM_025230.5

p.R337*

c.1009C>T