Varaico: Literature-Extracted Genetic Variants

Gene:DDRGK1
Variant:p.E153K

DDRGK1

58 papers

RefSeq Summary

The protein encoded by this gene interacts with components of the ubiquitin fold modifier 1 conjugation pathway and helps prevent apoptosis in ER-stressed secretory tissues. In addition, the encoded p...

Pfam Domains

DDRGKaa 115–303UCSCDDRGK domain

Gene Aliases

HGNC Name

DDRGK domain containing 1

HGNC Previous Symbol

C20orf116

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_023935.3
p.E153K
c.457G>A
Surrounding Variants
1 paper
NM_023935.3
p.R152H
c.455G>A
1 paper
NM_023935.3
p.E149D
c.447G>T
1 paper
NM_023935.3
p.E149D
c.447G>C
1 paper
NM_023935.3
p.L148L
c.444C>T
1 paper
NM_023935.3
p.R147Q
c.440G>A
1 paper
NM_023935.3
p.R147*
c.439C>T
1 paper
NM_023935.3
p.E159D
c.477G>T
1 paper
NM_023935.3
p.E159D
c.477G>C
1 paper
NM_023935.3
p.R145W
c.433C>T
1 paper
NM_023935.3
p.R164C
c.490C>T
1 paper
NM_023935.3
p.A140S
c.418G>T
1 paper
NM_023935.3
p.E139D
c.417G>T
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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."