Varaico: Literature-Extracted Genetic Variants

Gene:TMX2
Variant:p.C170S

TMX2

39 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 137–243UCSCThioredoxin

Gene Aliases

HGNC Name

thioredoxin related transmembrane protein 2

HGNC Previous Symbol

TXNDC14

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_015959.4
p.C170S
c.508T>A
Surrounding Variants
1 paper
NM_015959.4
p.C170G
c.508T>G
2 papers
NM_015959.4
p.C170S
c.509G>C
1 paper
NM_015959.4
p.A178T
c.532G>A
1 paper
NM_015959.4
p.K154N
c.462G>C
1 paper
NM_015959.4
p.K154N
c.462G>T
1 paper
NM_015959.4
p.R152W
c.454C>T
1 paper
NM_015959.4
p.D201_V202del2
c.601_605del6
1 paper
NM_015959.4
p.D147N
c.439G>A
1 paper
NM_015959.4
p.I146T
c.437T>C
1 paper
NM_015959.4
p.T204del1
c.610_611delACG
4 papers
NM_015959.4
p.R205Q
c.614G>A
1 paper
NM_015959.4
p.D143E
c.429T>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."