Varaico: Literature-Extracted Genetic Variants

Gene:OTUD6A
Variant:p.T213S

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
Selected Variant
1 paper
NM_207320.3
p.T213S
c.637A>T
Surrounding Variants
1 paper
NM_207320.3
p.T213S
c.638C>G
1 paper
NM_207320.3
p.N209N
c.627C>T
1 paper
NM_207320.3
p.L225R
c.674T>G
1 paper
NM_207320.3
p.V228I
c.682G>A
1 paper
NM_207320.3
p.D239N
c.715G>A
1 paper
NM_207320.3
p.I244I
c.732C>A
2 papers
NM_207320.3
p.K180R
c.539A>G
1 paper
NM_207320.3
p.I255M
c.765C>G
1 paper
NM_207320.3
p.R155C
c.463C>T
1 paper
NM_207320.3
p.A277A
c.831C>T
1 paper
NM_207320.3
p.G278S
c.832G>A
1 paper
NM_207320.3
p.G278fs
c.832_833fs
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