S281I (p.Ser281Ile) variant of TSHR (Thyrotropin receptor)
S281I (p.Ser281Ile) in TSHR (Thyrotropin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Thyroid adenoma, hyperfunctioning, somatic. The record also includes published literature and structural context.
S281I (p.Ser281Ile) variant details
- p.Ser281Ile
- rs121908873
- ClinGen CA118239
- cosmic curated COSV53316
- ClinVar RCV000006816
- Pathogenic
- Thyroid adenoma, hyperfunctioning, somatic
- Missense
- ClinVar: Pathogenic (Thyroid adenoma, hyperfunctioning, somatic)
- EBI: Pathogenic (in hyperthyroidism)
- UniProt: Pathogenic (in hyperthyroidism)
- Structural context available
- Cited in: Congenital hyperthyroidism caused by a solitary toxic adenoma harboring a novel somatic mutation… (PMID 9294132)