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.V221I

c.661G>A

Surrounding Variants

1 paper

NM_025230.5

p.P228L

c.683C>T

1 paper

NM_025230.5

p.P228P

c.684T>G

1 paper

NM_025230.5

p.K210N

c.630G>C

1 paper

NM_025230.5

p.K210N

c.630G>T

1 paper

NM_025230.5

p.R207C

c.619C>T

1 paper

NM_025230.5

p.W238C

c.714G>T

1 paper

NM_025230.5

p.R197L

c.590G>T

1 paper

NM_025230.5

p.D193Splc

c.577+55C>G

1 paper

NM_025230.5

p.Y248H

c.742T>C

1 paper

NM_025230.5

p.L259F

c.775C>T

1 paper

NM_025230.5

p.G184S

c.550G>A

1 paper

NM_025230.5

p.R265C

c.793C>T