Varaico: Literature-Extracted Genetic Variants

Gene:DDRGK1

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
1–12 of 109 variants
9 papers
NM_023935.3
p.K267R
c.800A>G
6 papers
NM_023935.3
p.E136_A137Splc
c.408+1G>A
3 papers
NM_023935.3
p.E39K
c.115G>A
3 papers
NM_023935.3
p.A303T
c.907G>A
2 papers
NM_023935.3
p.E153K
c.457G>A
2 papers
NM_023935.3
p.E185K
c.553G>A
2 papers
NM_023935.3
p.V198A
c.593T>C
2 papers
NM_023935.3
p.F268L
c.802T>C
2 papers
NM_023935.3
p.F268L
c.804C>G
2 papers
NM_023935.3
p.F268L
c.804C>A
1 paper
NM_023935.3
p.M1I
c.3G>A
1 paper
NM_023935.3
p.V9I
c.25G>A
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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."