S281N (p.Ser281Asn) variant of TSHR (Thyrotropin receptor)
S281N (p.Ser281Asn) in TSHR (Thyrotropin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial hyperthyroidism due to mutations in TSH receptor. The record also includes published literature and structural context.
S281N (p.Ser281Asn) variant details
- p.Ser281Asn
- rs121908873
- ClinGen CA118254
- cosmic curated COSV53316
- ClinVar RCV000006823
- Pathogenic
- Familial hyperthyroidism due to mutations in TSH receptor
- Missense
- ClinVar: Pathogenic (Familial hyperthyroidism due to mutations in TSH receptor)
- EBI: Pathogenic (in HTNA)
- UniProt: Pathogenic (in HTNA)
- Structural context available
- Cited in: Severe congenital hyperthyroidism caused by a germ-line neo mutation in the extracellular portion of the thyrotropin… (PMID 9589634)
- Cited in: Activating thyrotropin receptor mutations are present in nonadenomatous hyperfunctioning nodules of toxic or autonomous… (PMID 10852462)