Annotation Detail

Information
Associated Genes
INS
Associated Variants
INS p.Cys96Ser (p.C96S), INS-IGF2 c.187+887G>C ( ENST00000397262.5, ENST00000381330.5, ENST00000397270.1, ENST00000250971.7, ENST00000512523.1 )
INS p.Cys96Tyr (p.C96Y), INS-IGF2 c.187+887G>A ( ENST00000512523.1, ENST00000397262.5, ENST00000397270.1, ENST00000381330.5, ENST00000250971.7 )
INS p.Cys96Ser (p.C96S), INS-IGF2 c.187+887G>C ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 )
INS p.Cys96Tyr (p.C96Y), INS-IGF2 c.187+887G>A ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 )
Associated Disease
Diabetes
Source Database
DisGeNET
Description
Thus, Munich Ins2(C95S) mutant mice are considered a valuable model to study the mechanisms of beta-cell dysfunction and death during the development of diabetes.
Pubmed
17303807
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.08
Year of publication
2007
Drugs