Varaico: Literature-Extracted Genetic Variants

Gene:DERL3

DERL3

29 papers

RefSeq Summary

The protein encoded by this gene belongs to the derlin family, and resides in the endoplasmic reticulum (ER). Proteins that are unfolded or misfolded in the ER must be refolded or degraded to maintain...

Pfam Domains

DER1aa 13–203UCSCDer1-like family

Gene Aliases

HGNC Name

derlin 3

HGNC Previous Symbol

C22orf14

Papers
RefSeq ID
Protein change
DNA change
1–12 of 23 variants
3 papers
NM_001002862.3
p.G5R
c.13G>C
3 papers
NM_001002862.3
p.G5R
c.13G>A
3 papers
NM_001002862.3
p.A211V
c.632C>T
2 papers
NM_001002862.3
p.R93P
c.278G>C
1 paper
NM_001002862.3
p.A2T
c.4G>A
1 paper
NM_001002862.3
p.G5fs
c.13_14fs
1 paper
NM_001002862.3
p.W55*
c.164G>A
1 paper
NM_001002862.3
p.W55*
c.165G>A
1 paper
NM_001002862.3
p.L76F
c.226C>T
1 paper
NM_001002862.3
p.M100I
c.300G>T
1 paper
NM_001002862.3
p.M100I
c.300G>C
1 paper
NM_001002862.3
p.M100I
c.300G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."