Varaico: Literature-Extracted Genetic Variants

Gene:TMX1

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
1–12 of 31 variants
3 papers
NM_030755.5
p.A241V
c.722C>T
1 paper
NM_030755.5
p.A2V
c.5C>T
1 paper
NM_030755.5
p.P10S
c.28C>T
1 paper
NM_030755.5
p.H25N
c.73C>A
1 paper
NM_030755.5
p.T35_D46del0
c.103_138del36
1 paper
NM_030755.5
p.T35_R40del0
c.105_119del15
1 paper
NM_030755.5
p.D36del1
c.106_108delGAC
1 paper
NM_030755.5
p.N38_D46del0
c.112_138del27
1 paper
NM_030755.5
p.W39_E41delins
c.116_122delinsC
1 paper
NM_030755.5
p.R40T
c.119G>C
1 paper
NM_030755.5
p.E41_D46del0
c.121_138del18
1 paper
NM_030755.5
p.E41_G45del0
c.123_134del12
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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."