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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DCAF12

DCAF12

30 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

Beta-prop_DCAF12aa 75–453UCSCDDB1- and CUL4-associated factor 12 beta propeller

Gene Aliases

HGNC Name

DDB1 and CUL4 associated factor 12

HGNC Previous Symbols

KIAA1892; WDR40A

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 29 variants

5 papers

chr9:34107507 C>T

NM_015397.4

p.R131Q

c.392G>A

Beta-prop_DCAF12

Exome: 14.8% (AC=215696, hom=20901)Genome: 12.6% (AC=19126, hom=2043)22 overlapping SVs

2 papers

chr9:34126400 T>C

NM_015397.4

p.K11R

c.32A>G

Exome: 0.0% (AC=1, hom=0)Genome: n/a23 overlapping SVs

1 paper

chr9:34126406 T>C

NM_015397.4

p.K9R

c.26A>G

exact variant not in gnomAD23 overlapping SVs

1 paper

chr9:34125261 G>A

NM_015397.4

p.S32L

c.95C>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a23 overlapping SVs

1 paper

chr9:34125225 C>T

NM_015397.4

p.R44K

c.131G>A

Exome: 0.0% (AC=13, hom=0)Genome: 0.0% (AC=1, hom=0)23 overlapping SVs

1 paper

chr9:34125163 G>C

NM_015397.4

p.R65G

c.193C>G

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

1 paper

chr9:34125160 C>A

NM_015397.4

p.V66L

c.196G>T

exact variant not in gnomAD23 overlapping SVs

1 paper

chr9:34125024 G>T

NM_015397.4

p.T111K

c.332C>A

Beta-prop_DCAF12

Exome: 0.0% (AC=2, hom=0)Genome: n/a23 overlapping SVs

1 paper

chr9:34107516 A>T

NM_015397.4

p.L128Q

c.383T>A

Beta-prop_DCAF12

exact variant not in gnomAD22 overlapping SVs

1 paper

chr9:34107509 G>C

NM_015397.4

p.D130E

c.390C>G

Beta-prop_DCAF12

Exome: 0.0% (AC=1, hom=0)Genome: n/a22 overlapping SVs

1 paper

chr9:34107509 G>T

NM_015397.4

p.D130E

c.390C>A

Beta-prop_DCAF12

Exome: 0.0% (AC=1, hom=0)Genome: n/a22 overlapping SVs

1 paper

chr9:34107447 G>C

NM_015397.4

p.S151C

c.452C>G

Beta-prop_DCAF12

exact variant not in gnomAD22 overlapping SVs

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