TXNRD2
This page contains an overview of the genetic variation in the TXNRD2 gene, including its role in inherited cardiac disease. For more details, click on the links below, or for a specific variant, enter the HGVS variant here:
TXNRD2 gene and transcript details
Gene Name
thioredoxin reductase 2
Gene Links
Ensembl: ENSG00000184470 -
Locus Reference Genomic: LRG_417
Genomic Location
Chromosome 22 : 19,864,628 - 19,929,326 (reverse strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (1572 bases) | Protein (524 aa) |
|---|---|---|
 |
ENST00000400521 | ENSP00000383365 |
 |
LRG_417t1 | LRG_417p1 |
 |
NM_006440.3 | |
 |
Q9NNW7 |
Summary of TXNRD2 in Cardiomyopathies
TXNRD2 variants in ExAC
Details of the protein-altering TXNRD2 variants (missense, loss of function truncating, inframe indels and splice site regions) found in the ExAC database are shown below. To view lists of specific variants with links to detailed population frequency data, click on the variant numbers - for all or a particular variant class.
| Total Variants | Combined frequency of rare variants | |
|---|---|---|
| All Variants | 274 | 0.00463 |
| Truncating | 23 | 0.00023 |
| Missense | 210 | 0.00377 |
| Inframe | 2 | 0.00003 |
| Splice Site | 39 | 0.00061 |