R135S (p.Arg135Ser) variant of KRT12 (Keratin, type I cytoskeletal 12)
R135S (p.Arg135Ser) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available record places it in the context of not provided. The record also includes published literature and structural context.
R135S (p.Arg135Ser) variant details
- p.Arg135Ser
- rs61282718
- ClinGen CA216515
- ClinVar RCV000056423
- UniProt VAR 031394
- not provided
- Missense
- ClinVar: not provided (not provided)
- EBI: Pathogenic (in MECD1)
- UniProt: Pathogenic (in MECD1)
- Structural context available
- Cited in: A novel arginine substitution mutation in 1A domain and a novel 27 bp insertion mutation in 2B domain of keratin 12… (PMID 15148206)
- Cited in: A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy. (PMID 10612503)