Varaico: Literature-Extracted Genetic Variants

Gene:DDI1
Variant:p.R393*

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
2 papers
NM_001001711.3
p.R393*
c.1177C>T
Surrounding Variants
1 paper
NM_001001711.3
p.R393Q
c.1178G>A
1 paper
NM_001001711.3
p.E395E
c.1185G>A
1 paper
NM_001001711.3
p.*397Y
c.1191A>C
1 paper
NM_001001711.3
p.*397Y
c.1191A>T
1 paper
NM_001001711.3
p.I384S
c.1151T>G
1 paper
NM_001001711.3
p.K382M
c.1145A>T
1 paper
NM_001001711.3
p.D381E
c.1143C>A
1 paper
NM_001001711.3
p.D381E
c.1143C>G
1 paper
NM_001001711.3
p.T353A
c.1057A>G
1 paper
NM_001001711.3
p.S341A
c.1021T>G
1 paper
NM_001001711.3
p.R336Q
c.1007G>A
1 paper
NM_001001711.3
p.D323N
c.967G>A
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."