Varaico: Literature-Extracted Genetic Variants

Gene:DESI2
Variant:p.M17I

DESI2

20 papers

Pfam Domains

Peptidase_C97aa 5–149UCSCPPPDE putative peptidase domain

Gene Aliases

HGNC Name

desumoylating isopeptidase 2

HGNC Previous Symbols

C1orf121; FAM152A; PPPDE1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016076.5
p.M17I
c.51G>C
Surrounding Variants
1 paper
NM_016076.5
p.M17I
c.51G>A
1 paper
NM_016076.5
p.M17I
c.51G>T
1 paper
NM_016076.5
p.I52L
c.154A>T
1 paper
NM_016076.5
p.E54delFs
c.162delA
1 paper
NM_016076.5
p.G58R
c.172G>A
1 paper
NM_016076.5
p.A60D
c.179C>A
1 paper
NM_016076.5
p.M104V
c.310A>G
2 papers
NM_016076.5
p.C108S
c.322T>A
2 papers
NM_016076.5
p.C108S
c.323G>C
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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."