Varaico: Literature-Extracted Genetic Variants

Gene:TMX1
Variant:p.C106S

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.C106S
c.317G>C
Surrounding Variants
1 paper
NM_030755.5
p.C106S
c.316T>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.G143D
c.428G>A
1 paper
NM_030755.5
p.P101T
c.301C>A
1 paper
NM_030755.5
p.E77G
c.230A>G
1 paper
NM_030755.5
p.L76_V78del3
c.226_233del9
1 paper
NM_030755.5
p.S68_W72delFs
c.204_214del11
1 paper
NM_030755.5
p.E65V
c.194A>T
1 paper
NM_030755.5
p.C59*
c.177T>A
1 paper
NM_030755.5
p.A58A
c.174T>A
1 paper
NM_030755.5
p.D46_F51del0
c.138_152del15
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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."