Varaico: Literature-Extracted Genetic Variants

Gene:ERP44

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
1–12 of 19 variants
3 papers
NM_015051.3
p.T369A
c.1105A>G
2 papers
NM_015051.3
p.R127Q
c.380G>A
1 paper
NM_015051.3
p.P3A
c.7C>G
1 paper
NM_015051.3
p.L16P
c.47T>C
1 paper
NM_015051.3
p.L19_V20Splc
c.58-3C>T
1 paper
NM_015051.3
p.Q62E
c.184C>G
1 paper
NM_015051.3
p.H65L
c.194A>T
1 paper
NM_015051.3
p.V90I
c.268G>A
1 paper
NM_015051.3
p.S96Splc
c.286+1G>A
1 paper
NM_015051.3
p.F113Y
c.338T>A
1 paper
NM_015051.3
p.M118I
c.354G>T
1 paper
NM_015051.3
p.M118I
c.354G>C
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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."