Varaico: Literature-Extracted Genetic Variants

Gene:DDRGK1
Variant:p.F268L

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.F268L
c.804C>G
Surrounding Variants
2 papers
NM_023935.3
p.F268L
c.804C>A
2 papers
NM_023935.3
p.F268L
c.802T>C
1 paper
NM_023935.3
p.K267M
c.800A>T
9 papers
NM_023935.3
p.K267R
c.800A>G
1 paper
NM_023935.3
p.I271M
c.813A>G
1 paper
NM_023935.3
p.R265W
c.793C>T
1 paper
NM_023935.3
p.P273fs
c.817_818fs
1 paper
NM_023935.3
p.P273delFs
c.818delG
1 paper
NM_023935.3
p.V261V
c.783G>T
1 paper
NM_023935.3
p.F282F
c.846C>T
1 paper
NM_023935.3
p.R284Q
c.851G>A
1 paper
NM_023935.3
p.R286Q
c.857G>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."