Varaico: Literature-Extracted Genetic Variants

Gene:OTUD5
Variant:p.L352P

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
3 papers
NM_017602.4
p.L352P
c.1055T>C
Surrounding Variants
1 paper
NM_001136157.2
p.L347delFs
c.1040_1041delCA
1 paper
NM_001136157.2
p.G344delFs
c.1030delC
1 paper
NM_001136157.2
p.T340_I341delFs
c.1020_1023del4
1 paper
NM_017602.4
p.G358R
c.1072G>C
1 paper
NM_017602.4
p.G358R
c.1072G>A
1 paper
NM_001136157.2
p.P336delFs
c.1007_1008delAG
1 paper
NM_001136157.2
p.P336H
c.1007C>A
1 paper
NM_001136157.2
p.Y324delFs
c.970_971delTA
1 paper
NM_001136157.2
p.N315_E318delFs
c.944_953del10
1 paper
NM_001136157.2
p.N307delFs
c.921delG
1 paper
NM_001136157.2
p.E304delFs
c.912delT
1 paper
NM_001136157.2
p.R294C
c.880C>T
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