Varaico: Literature-Extracted Genetic Variants

Gene:DESI1
Variant:p.C108S

DESI1

50 papers

Pfam Domains

Peptidase_C97aa 7–149UCSCPPPDE putative peptidase domain

Gene Aliases

HGNC Name

desumoylating isopeptidase 1

HGNC Previous Symbols

FAM152B; PPPDE2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_015704.3
p.C108S
c.322T>A
Surrounding Variants
2 papers
NM_015704.3
p.C108S
c.323G>C
1 paper
NM_015704.3
p.E105insFs
c.315dupA
1 paper
NM_015704.3
p.E93fs
c.277_278fs
1 paper
NM_015704.3
p.E93delFs
c.277delC
1 paper
NM_015704.3
p.L91L
c.273G>A
1 paper
NM_015704.3
p.G75W
c.223G>T
1 paper
NM_015704.3
p.Q154R
c.461A>G
1 paper
NM_015704.3
p.P60fs
c.178_179fs
1 paper
NM_015704.3
p.G53A
c.158G>C
1 paper
NM_015704.3
p.D46Y
c.136G>T
1 paper
NM_015704.3
p.I36I
c.108C>A
1 paper
NM_015704.3
p.E34D
c.102A>T
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