Varaico: Literature-Extracted Genetic Variants

Gene:DDRGK1
Variant:p.P55S

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
1 paper
NM_023935.3
p.P55S
c.163C>T
Surrounding Variants
1 paper
NM_023935.3
p.E56K
c.166G>A
1 paper
NM_023935.3
p.L53L
c.157C>T
1 paper
NM_023935.3
p.P52H
c.155C>A
1 paper
NM_023935.3
p.P58P
c.174G>C
1 paper
NM_023935.3
p.Q49P
c.146A>C
1 paper
NM_023935.3
p.G61E
c.182G>A
1 paper
NM_023935.3
p.G61G
c.183A>T
1 paper
NM_023935.3
p.G61fs
c.181_182fs
1 paper
NM_023935.3
p.A44G
c.131C>G
1 paper
NM_023935.3
p.R68S
c.204G>T
1 paper
NM_023935.3
p.R68S
c.204G>C
1 paper
NM_023935.3
p.D69Y
c.205G>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."