Varaico: Literature-Extracted Genetic Variants

Gene:OTUD1
Variant:p.Y445*

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.Y445*
c.1335C>G
Surrounding Variants
1 paper
NM_001145373.3
p.Y445*
c.1335C>A
1 paper
NM_001145373.3
p.W448*
c.1343G>A
1 paper
NM_001145373.3
p.W448*
c.1344G>A
1 paper
NM_001145373.3
p.D459N
c.1375G>A
1 paper
NM_001145373.3
p.G430V
c.1289G>T
1 paper
NM_001145373.3
p.S428T
c.1283G>C
1 paper
NM_001145373.3
p.A463D
c.1388C>A
1 paper
NM_001145373.3
p.M466R
c.1397T>G
1 paper
NM_001145373.3
p.A467D
c.1400C>A
1 paper
NM_001145373.3
p.S469A
c.1405T>G
1 paper
NM_001145373.3
p.L470*
c.1409T>A
1 paper
NM_001145373.3
p.P420L
c.1259C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."