ERBB2 S310F
| Gene | ERBB2 |
| Variant | missense |
| Amino Acid Change | S310F |
| DNA Change (Coding Nucleotide) | 929C>T |
| Transcript ID (GRCh37/hg19) | ENST00000269571 |
| Codon | 310 |
| Exon | 8 |
| Genomic Coordinates (GRCh37/hg19) | 17:37868208-37868208 |
| COSMIC ID | 48358 |
| Germline/Somatic? | Somatic |
Pertinent Negative In
| Tumor Type | Primary Site |
|---|
Interpretations
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Interpretation
Activating extracellular domain ERBB2 mutations (S310F, S310Y, R157W) have been identified in urothelial carcinoma (enriched in micropapillary variant) and adenocarcinomas of breast and lung. These activating mutations may have therapeutic potential in some clinical settings.
Last updated: 2017-01-20 03:28:23 UTC
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