Varaico: Literature-Extracted Genetic Variants

Gene:TMX3
Variant:p.V18V

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.V18V
c.54A>T
Surrounding Variants
1 paper
NM_019022.5
p.C24delFs
c.71delC
1 paper
NM_019022.5
p.L19_K25del0
c.55_75del21
1 paper
NM_019022.5
p.S34Splc
c.101+657A>G
1 paper
NM_019022.5
p.V16Splc
c.46+1G>C
1 paper
NM_019022.5
p.A9T
c.25G>A
2 papers
NM_019022.5
p.W7R
c.19T>C
2 papers
NM_019022.5
p.W7R
c.19T>A
4 papers
NM_019022.5
p.R39Q
c.116G>A
1 paper
NM_019022.5
p.A50V
c.149C>T
1 paper
NM_019022.5
p.G54delFs
c.161delC
1 paper
NM_019022.5
p.N64delFs
c.191delT
1 paper
NM_019022.5
p.E69K
c.205G>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."