Varaico: Literature-Extracted Genetic Variants

Gene:TMX3
Variant:p.T366A

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.T366A
c.1096A>G
Surrounding Variants
1 paper
NM_019022.5
p.S365P
c.1093T>C
2 papers
NM_019022.5
p.V333I
c.997G>A
2 papers
NM_019022.5
p.V309I
c.925G>A
1 paper
NM_019022.5
p.M377I
c.1131G>T
1 paper
NM_019022.5
p.M377I
c.1131G>C
1 paper
NM_019022.5
p.M377I
c.1131G>A
1 paper
NM_019022.5
p.V388I
c.1162G>A
1 paper
NM_019022.5
p.C393R
c.1177T>C
1 paper
NM_019022.5
p.I406L
c.1216A>T
1 paper
NM_019022.5
p.I406L
c.1216A>C
1 paper
NM_019022.5
p.V412A
c.1235T>C
1 paper
NM_019022.5
p.*455*
c.1364G>A
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