Varaico: Literature-Extracted Genetic Variants

Gene:OTUD5
Variant:p.L479V

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.L479V
c.1435C>G
Surrounding Variants
2 papers
NM_017602.4
p.L482_P490del9
c.1444_1469del27
3 papers
NM_017602.4
p.G494S
c.1480G>A
1 paper
NM_001136157.2
p.M468T
c.1403T>C
1 paper
NM_001136157.2
p.R451L
c.1352G>T
1 paper
NM_001136157.2
p.S447_P448del2
c.1339_1343del6
1 paper
NM_001136157.2
p.E442_R446del5
c.1324_1337del15
2 papers
NM_017602.4
p.G494S
c.1480G>A
1 paper
NM_017602.4
p.S435R
c.1305T>G
1 paper
NM_017602.4
p.S435R
c.1305T>A
1 paper
NM_017602.4
p.S435R
c.1303A>C
1 paper
NM_017602.4
p.P509L
c.1526C>T
1 paper
NM_001136157.2
p.A511P
c.1531G>C
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