Varaico: Literature-Extracted Genetic Variants

Gene:TXNDC12

TXNDC12

23 papers

RefSeq Summary

This gene encodes a member of the thioredoxin superfamily. Members of this family are characterized by a conserved active motif called the thioredoxin fold that catalyzes disulfide bond formation and ...

Pfam Domains

Thioredoxin_7aa 39–120UCSCThioredoxin-like

Gene Aliases

HGNC Name

thioredoxin domain containing 12

HGNC Alias Symbols

TLP19; ERP18; ERP19; hAG-1; AGR1; PDIA16

Papers
RefSeq ID
Protein change
DNA change
1–12 of 30 variants
1 paper
NM_015913.4
p.M1I
c.3G>A
1 paper
NM_015913.4
p.E2Q
c.4G>C
1 paper
NM_015913.4
p.P5P
c.15T>A
1 paper
NM_015913.4
p.R6C
c.16C>T
1 paper
NM_015913.4
p.L12V
c.34T>G
1 paper
NM_015913.4
p.S16T
c.47G>C
1 paper
NM_015913.4
p.I22T
c.65T>C
1 paper
NM_015913.4
p.N28D
c.82A>G
1 paper
NM_015913.4
p.G33Splc
c.97+2463A>G
1 paper
NM_015913.4
p.G33Splc
c.97+2645C>A
1 paper
NM_015913.4
p.H39N
c.115C>A
1 paper
NM_015913.4
p.G54delFs
c.161delC
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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."