Varaico: Literature-Extracted Genetic Variants

Gene:TMX1
Variant:p.E248G

TMX1

34 papers

RefSeq Summary

This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein h...

Pfam Domains

Thioredoxinaa 30–129UCSCThioredoxin

Gene Aliases

HGNC Name

thioredoxin related transmembrane protein 1

HGNC Alias Symbol

PDIA11

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_030755.5
p.E248G
c.743A>G
Surrounding Variants
3 papers
NM_030755.5
p.A241V
c.722C>T
1 paper
NM_030755.5
p.N258Y
c.772A>T
1 paper
NM_030755.5
p.Q263H
c.789G>C
1 paper
NM_030755.5
p.Q263H
c.789G>T
1 paper
NM_030755.5
p.G143D
c.428G>A
1 paper
NM_030755.5
p.D122E
c.366C>A
1 paper
NM_030755.5
p.D122E
c.366C>G
1 paper
NM_030755.5
p.C106S
c.317G>C
1 paper
NM_030755.5
p.C106S
c.316T>A
1 paper
NM_030755.5
p.P101T
c.301C>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."