R36G (p.Arg36Gly) variant of TGFB2 (P61812)
R36G (p.Arg36Gly) in TGFB2 (P61812) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Loeys-Dietz syndrome 4. The record also includes published literature and structural context.
R36G (p.Arg36Gly) variant details
- p.Arg36Gly
- UniProt VAR 091115
- Uncertain significance
- Loeys-Dietz syndrome 4
- Missense
- ClinVar: Uncertain significance (Loeys-Dietz syndrome 4)
- EBI: Pathogenic (in CAEND2)
- UniProt: Pathogenic (in CAEND2)
- Structural context available
- Cited in: Heterozygous mutations in the straitjacket region of the latency-associated peptide domain of TGFB2 cause… (PMID 39014191)
- Cited in: Transforming growth factor, beta-2 gene mutation causes autosomal dominant Camurati-Engelmann disease, type 2 (OMIM %… (PMID 40204055)