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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:USP17L2

USP17L2

62 papers

RefSeq Summary

DUB3 is a member of the ubiquitin processing protease (UBP) subfamily of deubiquitinating enzymes. See USP1 (MIM 603478) for background information.[supplied by OMIM, Mar 2008].

Pfam Domains

UCHaa 80–372UCSCUbiquitin carboxyl-terminal hydrolase

Gene Aliases

HGNC Name

ubiquitin specific peptidase 17 like family member 2

HGNC Alias Symbol

DUB3

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 50 variants

7 papers

chr8:12138496 A>T

NM_201402.3

p.C89S

c.265T>A

UCH

exact variant not in gnomAD16 overlapping SVs

7 papers

chr8:12138495 C>G

NM_201402.3

p.C89S

c.266G>C

UCH

Exome: 0.0% (AC=1, hom=0)Genome: n/a16 overlapping SVs

4 papers

chr8:12138512 C>G

NM_201402.3

p.Q83H

c.249G>C

UCH

Exome: 1.0% (AC=12914, hom=1828)Genome: 1.5% (AC=1927, hom=28)16 overlapping SVs

3 papers

chr8:12138512 C>A

NM_201402.3

p.Q83H

c.249G>T

UCH

Exome: 0.0% (AC=0, hom=0)Genome: n/a16 overlapping SVs

3 papers

chr8:12138489 T>A

NM_201402.3

p.E91V

c.272A>T

UCH

Exome: 0.0% (AC=73, hom=7)Genome: 0.0% (AC=15, hom=3)16 overlapping SVs

3 papers

chr8:12138031 C>T

NM_201402.3

p.E244K

c.730G>A

UCH

Exome: 23.8% (AC=285168, hom=34157)Genome: 19.0% (AC=25614, hom=3632)16 overlapping SVs

3 papers

chr8:12137207 C>A

NM_201402.3

p.K518N

c.1554G>T

Exome: 0.1% (AC=1644, hom=164)Genome: 0.4% (AC=629, hom=57)16 overlapping SVs

2 papers

chr8:12138282 T>C

NM_201402.3

p.D160G

c.479A>G

UCH

Exome: 0.1% (AC=1204, hom=350)Genome: 0.7% (AC=952, hom=11)16 overlapping SVs

2 papers

chr8:12137772 C>A

NM_201402.3

p.C330F

c.989G>T

UCH

Exome: 0.0% (AC=530, hom=46)Genome: 0.0% (AC=18, hom=1)16 overlapping SVs

2 papers

chr8:12137767 C>T

NM_201402.3

p.D332N

c.994G>A

UCH

Exome: 0.3% (AC=4567, hom=511)Genome: 4.5% (AC=6206, hom=666)16 overlapping SVs

2 papers

chr8:12137553 G>A

NM_201402.3

p.A403V

c.1208C>T

Exome: 24.2% (AC=328776, hom=51086)Genome: 20.2% (AC=27616, hom=4270)16 overlapping SVs

2 papers

chr8:12137448 T>C

NM_201402.3

p.K438R

c.1313A>G

Exome: 45.0% (AC=614197, hom=128074)Genome: 43.1% (AC=58920, hom=11973)16 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."