Q61R (p.Gln61Arg) variant of HRAS (GTPase HRas)
Q61R (p.Gln61Arg) in HRAS (GTPase HRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Thyroid cancer, nonmedullary, 2; Large congenital melanocytic nevus; Linear nevu. The record also includes published literature and structural context.
Q61R (p.Gln61Arg) variant details
- p.Gln61Arg
- Ensembl rs2133991038
- cosmic curated COSV54242
- cosmic curated COSV54239
- cosmic curated COSV54243
- Likely pathogenic
- Thyroid cancer, nonmedullary, 2; Large congenital melanocytic nevus; Linear nevu
- Missense
- ClinVar: Likely pathogenic (Thyroid cancer, nonmedullary, 2; Large congenital melanocytic ne)
- EBI: Pathogenic (in melanoma)
- UniProt: Pathogenic (in melanoma)
- Structural context available
- Cited in: Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23… (PMID 24006476)