Varaico: Literature-Extracted Genetic Variants

Gene:TMX4
Variant:p.V193I

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.V193I
c.577G>A
Surrounding Variants
1 paper
NM_021156.4
p.Y215C
c.644A>G
2 papers
NM_021156.4
p.R230Q
c.689G>A
1 paper
NM_021156.4
p.A235V
c.704C>T
1 paper
NM_021156.4
p.H236Y
c.706C>T
1 paper
NM_021156.4
p.D258N
c.772G>A
1 paper
NM_021156.4
p.D290Y
c.868G>T
1 paper
NM_021156.4
p.G303R
c.907G>C
1 paper
NM_021156.4
p.G303R
c.907G>A
1 paper
NM_021156.4
p.E310K
c.928G>A
1 paper
NM_021156.4
p.V332L
c.994G>T
1 paper
NM_021156.4
p.V332L
c.994G>C
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