Varaico: Literature-Extracted Genetic Variants

Gene:ERP29
Variant:p.D98G

ERP29

37 papers

RefSeq Summary

This gene encodes a protein which localizes to the lumen of the endoplasmic reticulum (ER). It is a member of the protein disulfide isomerase (PDI) protein family but lacks an active thioredoxin motif...

Pfam Domains

ERp29_Naa 33–155UCSCERp29, N-terminal domain
ERp29aa 156–251UCSCEndoplasmic reticulum protein ERp29, C-terminal domain

Gene Aliases

HGNC Name

endoplasmic reticulum protein 29

HGNC Previous Symbol

C12orf8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006817.4
p.D98G
c.293A>G
Surrounding Variants
1 paper
NM_006817.4
p.K109N
c.327G>C
1 paper
NM_006817.4
p.K109N
c.327G>T
1 paper
NM_006817.4
p.D123A
c.368A>C
1 paper
NM_006817.4
p.Q142*
c.424C>T
1 paper
NM_006817.4
p.Q148E
c.442C>G
1 paper
NM_006817.4
p.G149E
c.446G>A
5 papers
NM_006817.4
p.C157S
c.469T>A
5 papers
NM_006817.4
p.C157S
c.470G>C
1 paper
NM_006817.4
p.S172F
c.515C>T
1 paper
NM_006817.4
p.E175D
c.525G>C
1 paper
NM_006817.4
p.E175D
c.525G>T
3 papers
NM_006817.4
p.K182R
c.545A>G
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."