Varaico: Literature-Extracted Genetic Variants

Gene:OTUD5
Variant:p.M218delFs

OTUD5

68 papers

RefSeq Summary

This gene encodes a member of the OTU (ovarian tumor) domain-containing cysteine protease superfamily. The OTU domain confers deubiquitinase activity and the encoded protein has been shown to suppress...

Pfam Domains

OTUaa 219–337UCSCOTU-like cysteine protease
OTUaa 219–337UCSCOTU-like cysteine protease

Gene Aliases

HGNC Name

OTU deubiquitinase 5

HGNC Alias Symbols

DKFZp761A052; DUBA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001136157.2
p.M218delFs
c.654delC
Surrounding Variants
1 paper
NM_001136157.2
p.E220delFs
c.660delC
1 paper
NM_001136157.2
p.D221delFs
c.662_663delAT
1 paper
NM_001136157.2
p.C224R
c.670T>C
19 papers
NM_001136157.2
p.C224S
c.670T>A
19 papers
NM_001136157.2
p.C224S
c.671G>C
1 paper
NM_001136157.2
p.K210delFs
c.629delT
1 paper
NM_001136157.2
p.A228_V229del2
c.682_686del6
1 paper
NM_001136157.2
p.Q199_E200delFs
c.597_598delCC
3 papers
NM_001136157.2
p.E200K
c.598G>A
1 paper
NM_001136157.2
p.Q199R
c.596A>G
1 paper
NM_001136157.2
p.E241K
c.721G>A
1 paper
NM_001136157.2
p.A255V
c.764C>T
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