Varaico: Literature-Extracted Genetic Variants

Gene:DDRGK1
Variant:p.E136K

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.E136K
c.406G>A
Surrounding Variants
6 papers
NM_023935.3
p.E136_A137Splc
c.408+1G>A
1 paper
NM_023935.3
p.R135C
c.403C>T
1 paper
NM_023935.3
p.Q134Q
c.402G>A
1 paper
NM_023935.3
p.Q134R
c.401A>G
1 paper
NM_023935.3
p.R131*
c.391C>T
1 paper
NM_023935.3
p.A130V
c.389C>T
1 paper
NM_023935.3
p.K128R
c.383A>G
1 paper
NM_023935.3
p.K124R
c.371A>G
1 paper
NM_023935.3
p.R123W
c.367C>T
1 paper
NM_023935.3
p.K121R
c.362A>G
1 paper
NM_023935.3
p.K116R
c.347A>G
1 paper
NM_023935.3
p.S114S
c.342G>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."