Annotation Detail
Information
- Associated Genes
- PIK3R1
- Associated Variants
-
PIK3R1 MUTATION
PIK3R1 MUTATION
PIK3R1 p.Met326Ile (p.M326I) ( ENST00000336483.10, ENST00000521381.6, ENST00000522084.6, ENST00000320694.13, ENST00000517643.2, ENST00000521657.6, ENST00000697457.1, ENST00000697458.1, ENST00000697460.1, ENST00000697461.1, ENST00000697462.1, ENST00000697465.1, ENST00000697466.1 )
PIK3R1 p.Met326Ile (p.M326I) ( ENST00000697460.1, ENST00000697461.1, ENST00000697462.1, ENST00000320694.13, ENST00000336483.10, ENST00000517643.2, ENST00000521381.6, ENST00000521657.6, ENST00000522084.6, ENST00000697457.1, ENST00000697458.1, ENST00000697465.1, ENST00000697466.1 ) - Associated Disease
- Diabetes Mellitus, Non-Insulin-Dependent
- Source Database
- DisGeNET
- Description
- Met326Ile aminoacid polymorphism in the human p85 alpha gene has no major impact on early insulin signaling in type 2 diabetes.
- Pubmed
- 15523593
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0887297471682879
- Year of publication
- 2004
Drugs