Varaico: Literature-Extracted Genetic Variants

TXNRD3

97 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 157–494UCSCPyridine nucleotide-disulphide oxidoreductase

Pyr_redox_dimaa 514–627UCSCPyridine nucleotide-disulphide oxidoreductase, dimerisation domain

Gene Aliases

HGNC Name

thioredoxin reductase 3

HGNC Previous Symbols

TXNRD3NB; TXNRD3IT1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_052883.3

p.S417Y

c.1250C>A

Surrounding Variants

1 paper

NM_052883.3

p.N429K

c.1287C>A

1 paper

NM_052883.3

p.E404*

c.1210G>T

1 paper

NM_052883.3

p.R393W

c.1177C>T

2 papers

NM_052883.3

p.K379insFs

c.1135_1136insA

1 paper

NM_052883.3

p.R365C

c.1093C>T

1 paper

NM_052883.3

p.M363fs

c.1087_1088fs

1 paper

NM_052883.3

p.V360F

c.1078G>T

1 paper

NM_052883.3

p.G357S

c.1069G>A

1 paper

NM_052883.3

p.L347_E348delins

c.1041_1044delinsT

1 paper

NM_052883.3

p.K336_T337insAG

c.1006_1010ins6

1 paper

NM_052883.3

p.F328_S329del2

c.982_986del6

1 paper

NM_052883.3

p.Y296C

c.887A>G