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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DCAF4

DCAF4

45 papers

RefSeq Summary

This gene encodes a WD repeat-containing protein that interacts with the Cul4-Ddb1 E3 ligase macromolecular complex. Multiple alternatively spliced transcript variants have been found for this gene. [...

Pfam Domains

Beta-prop_DCAF4aa 142–494UCSCDDB1- and CUL4-associated factor 4 beta-propeller domain

Gene Aliases

HGNC Name

DDB1 and CUL4 associated factor 4

HGNC Previous Symbols

WDR21; WDR21A

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 46 variants

3 papers

chr14:72954209 C>G

NM_015604.4

p.A285G

c.854C>G

Beta-prop_DCAF4

exact variant not in gnomAD22 overlapping SVs

2 papers

chr14:72938044 G>C

NM_015604.4

p.W22C

c.66G>C

Exome: 9.8% (AC=142289, hom=7482)Genome: 8.9% (AC=13589, hom=693)22 overlapping SVs

2 papers

chr14:72938044 G>T

NM_015604.4

p.W22C

c.66G>T

Exome: 0.0% (AC=23, hom=0)Genome: 0.0% (AC=1, hom=0)22 overlapping SVs

2 papers

chr14:72939813 G>A

NM_015604.4

p.R35Q

c.104G>A

Exome: 0.1% (AC=1695, hom=33)Genome: 0.1% (AC=100, hom=2)22 overlapping SVs

2 papers

chr14:72940301 C>T

NM_015604.4

p.T92M

c.275C>T

Exome: 0.0% (AC=79, hom=0)Genome: 0.0% (AC=6, hom=0)22 overlapping SVs

2 papers

chr14:72943011 G>A

NM_015604.4

p.R150H

c.449G>A

Beta-prop_DCAF4

Exome: 0.2% (AC=2340, hom=3)Genome: 0.1% (AC=151, hom=1)22 overlapping SVs

2 papers

chr14:72954478 C>T

NM_015604.4

p.L334F

c.1000C>T

Beta-prop_DCAF4

Exome: 2.7% (AC=39734, hom=663)Genome: 2.0% (AC=3095, hom=49)22 overlapping SVs

2 papers

chr14:72955551 C>G

NM_015604.4

p.S345C

c.1034C>G

Beta-prop_DCAF4

Exome: 9.7% (AC=142456, hom=7493)Genome: 8.7% (AC=13262, hom=684)22 overlapping SVs

1 paper

chr14:72937989 G>A

NM_015604.4

p.S4N

c.11G>A

exact variant not in gnomAD22 overlapping SVs

1 paper

chr14:72937999 G>C

NM_015604.4

p.Q7H

c.21G>C

Exome: 0.0% (AC=359, hom=0)Genome: 0.0% (AC=25, hom=0)22 overlapping SVs

1 paper

chr14:72937999 G>T

NM_015604.4

p.Q7H

c.21G>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a22 overlapping SVs

1 paper

chr14:72938009 C>A

NM_015604.4

p.R11R

c.31C>A

exact variant not in gnomAD22 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."