Varaico: Literature-Extracted Genetic Variants

Gene:DDI1
Variant:p.E189fs

DDI1

62 papers

Pfam Domains

ubiquitinaa 3–79UCSCUbiquitin family
Ddi2_HDDaa 141–206UCSCDdi2 HDD domain
Asp_proteaseaa 235–343UCSCAspartyl protease

Gene Aliases

HGNC Name

DDI proteasomal shuttling factor 1

HGNC Alias Symbol

FLJ36017

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001001711.3
p.E189fs
c.565_566fs
Surrounding Variants
1 paper
NM_001001711.3
p.R188K
c.563G>A
1 paper
NM_001001711.3
p.Q186*
c.556C>T
1 paper
NM_001001711.3
p.R199C
c.595C>T
1 paper
NM_001001711.3
p.T178T
c.534C>A
1 paper
NM_001001711.3
p.L171M
c.511C>A
1 paper
NM_001001711.3
p.R208G
c.622C>G
1 paper
NM_001001711.3
p.A168V
c.503C>T
1 paper
NM_001001711.3
p.P165T
c.493C>A
1 paper
NM_001001711.3
p.R219W
c.655C>T
1 paper
NM_001001711.3
p.N228T
c.683A>C
1 paper
NM_001001711.3
p.I231_F238insFs
c.692_714dup23
1 paper
NM_001001711.3
p.S142G
c.424A>G
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