Varaico: Literature-Extracted Genetic Variants

Gene:TMX3
Variant:p.W222*

TMX3

38 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 canonical protein...

Pfam Domains

Thioredoxinaa 26–128UCSCThioredoxin
Thioredoxin_6aa 157–338UCSCThioredoxin-like domain

Gene Aliases

HGNC Name

thioredoxin related transmembrane protein 3

HGNC Previous Symbol

TXNDC10

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_019022.5
p.W222*
c.665G>A
Surrounding Variants
1 paper
NM_019022.5
p.W222*
c.666G>A
1 paper
NM_019022.5
p.L239L
c.715T>C
1 paper
NM_019022.5
p.Y191del1
c.571_572delATA
1 paper
NM_019022.5
p.M290V
c.868A>G
1 paper
NM_019022.5
p.T298N
c.893C>A
1 paper
NM_019022.5
p.M301V
c.901A>G
2 papers
NM_019022.5
p.V309I
c.925G>A
2 papers
NM_019022.5
p.V333I
c.997G>A
1 paper
NM_019022.5
p.S365P
c.1093T>C
1 paper
NM_019022.5
p.T366A
c.1096A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."