Varaico: Literature-Extracted Genetic Variants

Gene:ERP44
Variant:p.T369A

ERP44

39 papers

RefSeq Summary

This gene encodes a member of the protein disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins. It has an inferred N-terminal signal peptide, a catalytically active thioredoxin (TRX...

Pfam Domains

Thioredoxinaa 30–138UCSCThioredoxin
Thioredoxin_6aa 167–350UCSCThioredoxin-like domain

Gene Aliases

HGNC Name

endoplasmic reticulum protein 44

HGNC Previous Symbol

TXNDC4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_015051.3
p.T369A
c.1105A>G
Surrounding Variants
1 paper
NM_015051.3
p.S381N
c.1142G>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."