Varaico: Literature-Extracted Genetic Variants

Gene:TMX2
Variant:p.C120S

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.C120S
c.359G>C
Surrounding Variants
1 paper
NM_015959.4
p.C120S
c.358T>A
1 paper
NM_015959.4
p.I121V
c.361A>G
1 paper
NM_015959.4
p.T118S
c.352A>T
1 paper
NM_015959.4
p.I117V
c.349A>G
1 paper
NM_015959.4
p.R111C
c.331C>T
2 papers
NM_015959.4
p.D109G
c.326A>G
1 paper
NM_015959.4
p.D109N
c.325G>A
1 paper
NM_015959.4
p.N101K
c.303C>A
1 paper
NM_015959.4
p.N101K
c.303C>G
1 paper
NM_015959.4
p.F96fs
c.286_287fs
1 paper
NM_015959.4
p.M95_F96insFs
c.285_286ins7
1 paper
NM_015959.4
p.I93delFs
c.277delA
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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."