Varaico: Literature-Extracted Genetic Variants

Gene:OTUD1
Variant:p.R243C

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.R243C
c.727C>T
Surrounding Variants
1 paper
NM_001145373.3
p.P263L
c.788C>T
1 paper
NM_001145373.3
p.D183E
c.549C>A
1 paper
NM_001145373.3
p.D183E
c.549C>G
3 papers
NM_001145373.3
p.C320S
c.958T>A
1 paper
NM_001145373.3
p.C320R
c.958T>C
3 papers
NM_001145373.3
p.C320S
c.959G>C
1 paper
NM_001145373.3
p.R323L
c.968G>T
1 paper
NM_001145373.3
p.S326C
c.976A>T
1 paper
NM_001145373.3
p.L148L
c.444G>C
1 paper
NM_001145373.3
p.R143_L148del6
c.427_443del18
1 paper
NM_001145373.3
p.V132G
c.395T>G
1 paper
NM_001145373.3
p.P131delFs
c.391_392delCC
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