Varaico: Literature-Extracted Genetic Variants

Gene:TMX2
Variant:p.A5P

TMX2

39 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 137–243UCSCThioredoxin

Gene Aliases

HGNC Name

thioredoxin related transmembrane protein 2

HGNC Previous Symbol

TXNDC14

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015959.4
p.A5P
c.13G>C
Surrounding Variants
1 paper
NM_015959.4
p.V14M
c.40G>A
1 paper
NM_015959.4
p.R19Q
c.56G>A
1 paper
NM_015959.4
p.P24T
c.70C>A
1 paper
NM_015959.4
p.Y26C
c.77A>G
1 paper
NM_015959.4
p.G48R
c.142G>C
2 papers
NM_015959.4
p.R53C
c.157C>T
1 paper
NM_015959.4
p.R53_E54Fs
c.157_160delinsGACGGFs
1 paper
NM_015959.4
p.D55A
c.164A>C
4 papers
NM_015959.4
p.G56R
c.166G>C
1 paper
NM_015959.4
p.D60N
c.178G>A
1 paper
NM_015959.4
p.D60E
c.180C>A
1 paper
NM_015959.4
p.D60E
c.180C>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."