Varaico: Literature-Extracted Genetic Variants

Gene:OTUD6B
Variant:p.H63_R64delFs

OTUD6B

37 papers

RefSeq Summary

This gene encodes a member of the ovarian tumor domain (OTU)-containing subfamily of deubiquitinating enzymes. Deubiquitinating enzymes are primarily involved in removing ubiquitin from proteins targe...

Pfam Domains

OTUaa 153–278UCSCOTU-like cysteine protease

Gene Aliases

HGNC Name

OTU deubiquitinase 6B

HGNC Alias Symbols

CGI-77; DUBA5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_016023.5
p.H63_R64delFs
c.189_190delTA
Surrounding Variants
2 papers
NM_016023.5
p.H63fs
c.187_188fs
1 paper
NM_016023.5
p.R64_E65delFs
c.192_195del4
1 paper
NM_016023.5
p.Q61R
c.182A>G
1 paper
NM_016023.5
p.E65fs
c.193_194fs
1 paper
NM_016023.5
p.Q69*
c.205C>T
1 paper
NM_016023.5
p.A53D
c.158C>A
1 paper
NM_016023.5
p.M33K
c.98T>A
1 paper
NM_016023.5
p.K29R
c.86A>G
1 paper
NM_016023.5
p.A28Splc
c.83-2A>G
1 paper
NM_016023.5
p.E2G
c.5A>G
1 paper
NM_016023.5
p.S81C
c.242C>G
2 papers
NM_016023.5
p.L91F
c.271C>T
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