Varaico: Literature-Extracted Genetic Variants

TXNRD1

72 papers

RefSeq Summary

The protein encoded by this gene belongs to the pyridine nucleotide-disulfide oxidoreductase family, and is a member of the thioredoxin (Trx) system. Three thioredoxin reductase (TrxR) isozymes are fo...

Pfam Domains

Glutaredoxinaa 68–130UCSCGlutaredoxin

Pyr_redox_2aa 163–500UCSCPyridine nucleotide-disulphide oxidoreductase

Pyr_redox_dimaa 520–633UCSCPyridine nucleotide-disulphide oxidoreductase, dimerisation domain

Gene Aliases

HGNC Name

thioredoxin reductase 1

HGNC Alias Symbols

TXNR; GRIM-12; Trxr1; TXNR1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 61 variants

2 papers

NM_001093771.3

p.M1V

c.1A>G

2 papers

NM_001093771.3

p.R56T

c.167G>C

1 paper

NM_001093771.3

p.G2A

c.5G>C

1 paper

NM_001093771.3

p.C3S

c.7T>A

1 paper

NM_001093771.3

p.C3S

c.8G>C

1 paper

NM_001093771.3

p.E5fs

c.13_14fs

1 paper

NM_001093771.3

p.G6V

c.17G>T

1 paper

NM_001093771.3

p.A12G

c.35C>G

1 paper

NM_001093771.3

p.K20_G21insFs

c.60_61insT

1 paper

NM_001093771.3

p.A31Splc

c.91+1874T>A

1 paper

NM_001093771.3

p.T39S

c.116C>G

1 paper

NM_001093771.3

p.G65R

c.193G>C