K31N (p.Lys31Asn) variant of ITGB4 (Integrin beta-4)
K31N (p.Lys31Asn) in ITGB4 (Integrin beta-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Junctional epidermolysis bullosa with pyloric atresia. The record also includes published literature and structural context.
K31N (p.Lys31Asn) variant details
- p.Lys31Asn
- rs2060737043
- ClinGen CA401037706
- ClinVar RCV001122207
- Ensembl rs2060737043
- Uncertain significance
- Junctional epidermolysis bullosa with pyloric atresia
- Missense
- ClinVar: Uncertain significance (Junctional epidermolysis bullosa with pyloric atresia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Junctional Epidermolysis Bullosa. (PMID 20301304)
- Cited in: Epidermolysis Bullosa with Pyloric Atresia. (PMID 20301336)