GNAS Q227L
| Gene | GNAS |
| Variant | missense |
| Amino Acid Change | Q227L |
| DNA Change (Coding Nucleotide) | 680A>T |
| Transcript ID (GRCh37/hg19) | ENST00000371100 |
| Codon | 227 |
| Exon | 1 |
| Genomic Coordinates (GRCh37/hg19) | 20:57429000-57429000 |
| Germline/Somatic? | Somatic |
Pertinent Negative In
| Tumor Type | Primary Site |
|---|
Interpretations
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Interpretation
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.
Last updated: 2016-02-12 20:40:08 UTC
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