Varaico: Literature-Extracted Genetic Variants

Gene:OTUD1
Variant:p.A44delFs

OTUD1

33 papers

RefSeq Summary

Deubiquitinating enzymes (DUBs; see MIM 603478) are proteases that specifically cleave ubiquitin (MIM 191339) linkages, negating the action of ubiquitin ligases. DUBA7 belongs to a DUB subfamily chara...

Pfam Domains

OTUaa 315–432UCSCOTU-like cysteine protease

Gene Aliases

HGNC Name

OTU deubiquitinase 1

HGNC Previous Symbol

OTDC1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001145373.3
p.A44delFs
c.131delC
Surrounding Variants
1 paper
NM_001145373.3
p.P48_T50del3
c.142_149del9
1 paper
NM_001145373.3
p.P48_T50del0
c.143_148del6
1 paper
NM_001145373.3
p.P38P
c.114C>A
1 paper
NM_001145373.3
p.P16_G17del1
c.48_50delGGG
1 paper
NM_001145373.3
p.G14V
c.41G>T
1 paper
NM_001145373.3
p.A93_L104delFs
c.279_310del32
1 paper
NM_001145373.3
p.G94fs
c.280_281fs
1 paper
NM_001145373.3
p.P95R
c.284C>G
1 paper
NM_001145373.3
p.P131delFs
c.391_392delCC
1 paper
NM_001145373.3
p.P131del1
c.391_392delCCC
1 paper
NM_001145373.3
p.V132G
c.395T>G
1 paper
NM_001145373.3
p.R143_L148del6
c.427_443del18
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