1 protein found in SwissVar (27 variants)
with gene/protein name P01308
Disclaimer: The query results are intended for research purposes only, not for clinical and diagnostic use.
| Accession | Entry name | Disease | Variants | 3D mapping (variant position) |
|---|---|---|---|---|
| P01308 | INS_HUMAN | p.Phe48Ser p.Phe49Leu p.Leu68Met p.Val92Leu |
| |
| P01308 | INS_HUMAN | hyperproinsulinemia, familial | p.His34Asp p.Arg89His p.Arg89Leu |
|
| P01308 | INS_HUMAN | diabetes mellitus, insulin-dependent, 2 | p.Arg55Cys |
|
| P01308 | INS_HUMAN | diabetes mellitus, permanent neonatal | p.Ala24Asp p.His29Asp p.Gly32Arg p.Gly32Ser p.Leu35Pro p.Cys43Gly p.Gly47Val p.Phe48Cys p.Gly84Arg p.Arg89Cys p.Gly90Cys p.Cys96Tyr p.Cys96Ser p.Ser101Cys p.Tyr103Cys p.Tyr108Cys |
|
| P01308 | INS_HUMAN | maturity-onset diabetes of the young 10 | p.Arg6His p.Arg6Cys p.Arg46Gln |
|