Varaico: Literature-Extracted Genetic Variants

DCAF8L1

49 papers

RefSeq Summary

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by Gly-His and Trp-Asp (GH-WD), which may fac...

Pfam Domains

WD40aa 186–224UCSCWD domain, G-beta repeat

WD40aa 425–466UCSCWD domain, G-beta repeat

WD40aa 470–509UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

DDB1 and CUL4 associated factor 8 like 1

HGNC Previous Symbol

WDR42B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001017930.2

p.R187C

c.559C>T

Surrounding Variants

1 paper

NM_001017930.2

p.A196D

c.587C>A

1 paper

NM_001017930.2

p.V199I

c.595G>A

1 paper

NM_001017930.2

p.N205I

c.614A>T

1 paper

NM_001017930.2

p.V220M

c.658G>A

1 paper

NM_001017930.2

p.R152L

c.455G>T

1 paper

NM_001017930.2

p.D239N

c.715G>A

1 paper

NM_001017930.2

p.C123R

c.367T>C

1 paper

NM_001017930.2

p.P117_R118delins

c.351_352delinsAA

1 paper

NM_001017930.2

p.C259Y

c.776G>A

1 paper

NM_001017930.2

p.E102D

c.306G>C

1 paper

NM_001017930.2

p.E102E

c.306G>A

1 paper

NM_001017930.2

p.R100G

c.298A>G