Varaico: Literature-Extracted Genetic Variants

Gene:TMX4
Variant:p.S72A

TMX4

25 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 38–137UCSCThioredoxin

Gene Aliases

HGNC Name

thioredoxin related transmembrane protein 4

HGNC Previous Symbol

TXNDC13

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021156.4
p.S72A
c.214T>G
Surrounding Variants
1 paper
NM_021156.4
p.Q68_S72delFs
c.204_214del11
1 paper
NM_021156.4
p.K79N
c.237G>T
1 paper
NM_021156.4
p.K79N
c.237G>C
1 paper
NM_021156.4
p.N80N
c.240T>C
1 paper
NM_021156.4
p.V88L
c.262G>T
1 paper
NM_021156.4
p.V88L
c.262G>C
1 paper
NM_021156.4
p.T11R
c.32C>G
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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."