Varaico: Literature-Extracted Genetic Variants

Gene:OTUD6A

OTUD6A

28 papers

RefSeq Summary

Deubiquitinating enzymes (DUBs; see MIM 603478) are proteases that specifically cleave ubiquitin (MIM 191339) linkages, negating the action of ubiquitin ligases. DUBA2 belongs to a DUB subfamily chara...

Pfam Domains

OTUaa 147–269UCSCOTU-like cysteine protease

Gene Aliases

HGNC Name

OTU deubiquitinase 6A

HGNC Alias Symbols

FLJ25831; HSHIN6; DUBA2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 27 variants
2 papers
NM_207320.3
p.A145V
c.434C>T
2 papers
NM_207320.3
p.K180R
c.539A>G
1 paper
NM_207320.3
p.R10C
c.28C>T
1 paper
NM_207320.3
p.E18V
c.53A>T
1 paper
NM_207320.3
p.Q25K
c.73C>A
1 paper
NM_207320.3
p.I26T
c.77T>C
1 paper
NM_207320.3
p.T39M
c.116C>T
1 paper
NM_207320.3
p.A53T
c.157G>A
1 paper
NM_207320.3
p.H59L
c.176A>T
1 paper
NM_207320.3
p.E85Q
c.253G>C
1 paper
NM_207320.3
p.R87Q
c.260G>A
1 paper
NM_207320.3
p.K93R
c.278A>G
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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."