|Amino Acid Change||Q227L|
|DNA Change (Coding Nucleotide)||680A>T|
|Transcript ID (GRCh37/hg19)||ENST00000371100|
|Genomic Coordinates (GRCh37/hg19)||20:57429000-57429000|
|Tumor Type||Primary Site|
This GNAS mutation causes constitutive activation of the G-protein complex and activates adenylate cyclase to produce cyclic-AMP (cAMP) that can activate oncogenic pathways. The frequency of GNAS mutation in non-small cell carcinoma of the lung cases is relatively low (<5%) and its significance remains to be fully elucidated.