R36S (p.Arg36Ser) variant of TGFB2 (P61812)
R36S (p.Arg36Ser) in TGFB2 (P61812) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CAEND2. The record also includes published literature and structural context.
R36S (p.Arg36Ser) variant details
- p.Arg36Ser
- UniProt VAR 091116
- Pathogenic
- in CAEND2
- Missense
- EBI: Pathogenic (in CAEND2)
- UniProt: Pathogenic (in CAEND2)
- Structural context available
- Cited in: Transforming growth factor, beta-2 gene mutation causes autosomal dominant Camurati-Engelmann disease, type 2 (OMIM %… (PMID 40204055)
- Cited in: Heterozygous mutations in the straitjacket region of the latency-associated peptide domain of TGFB2 cause… (PMID 39014191)