Varaico: Literature-Extracted Genetic Variants

Gene:DDRGK1
Variant:p.E187A

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.E187A
c.560A>C
Surrounding Variants
1 paper
NM_023935.3
p.E187K
c.559G>A
2 papers
NM_023935.3
p.E185K
c.553G>A
1 paper
NM_023935.3
p.L190L
c.570G>A
1 paper
NM_023935.3
p.F196V
c.586T>G
1 paper
NM_023935.3
p.R178R
c.534C>T
2 papers
NM_023935.3
p.V198A
c.593T>C
1 paper
NM_023935.3
p.E200D
c.600G>T
1 paper
NM_023935.3
p.E200D
c.600G>C
1 paper
NM_023935.3
p.V203I
c.607G>A
1 paper
NM_023935.3
p.M207I
c.621G>T
1 paper
NM_023935.3
p.M207I
c.621G>C
1 paper
NM_023935.3
p.M207I
c.621G>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."