Varaico: Literature-Extracted Genetic Variants

Gene:DESI2

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
1–12 of 23 variants
2 papers
NM_016076.5
p.M1Fs
c.2delinsTGFs
2 papers
NM_016076.5
p.C108S
c.322T>A
2 papers
NM_016076.5
p.C108S
c.323G>C
2 papers
NM_016076.5
p.T151S
c.451A>T
1 paper
NM_016076.5
p.A3fs
c.7_8fs
1 paper
NM_016076.5
p.A3fs
c.7_8fs
1 paper
NM_016076.5
p.M14_Y15Splc
c.42+185C>G
1 paper
NM_016076.5
p.M17I
c.51G>A
1 paper
NM_016076.5
p.M17I
c.51G>C
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
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