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

1–12 of 42 variants

5 papers

NM_025230.5

p.N297H

c.889A>C

3 papers

NM_025230.5

p.C332Y

c.995G>A

1 paper

NM_025230.5

p.G14G

c.42A>C

1 paper

NM_025230.5

p.Q70R

c.209A>G

1 paper

NM_025230.5

p.P94fs

c.280_281fs

1 paper

NM_025230.5

p.R124Q

c.371G>A

1 paper

NM_025230.5

p.R133Q

c.398G>A

1 paper

NM_025230.5

p.R140R

c.420G>A

1 paper

NM_025230.5

p.R145L

c.434G>T

1 paper

NM_025230.5

p.G184S

c.550G>A

1 paper

NM_025230.5

p.D193Splc

c.577+55C>G

1 paper

NM_025230.5

p.R197L

c.590G>T