Gene | ERBB2 |
Variant | missense |
Amino Acid Change | L869R |
DNA Change (Coding Nucleotide) | 2606T>G |
Transcript ID (GRCh37/hg19) | ENST00000269571 |
Codon | 869 |
Exon | 21 |
Genomic Coordinates (GRCh37/hg19) | 17:37881414-37881414 |
COSMIC ID | 249793 |
Germline/Somatic? | Somatic |
Tumor Type | Primary Site | |
---|---|---|
Adenocarcinoma | Breast |
This mutation is recognized as gain of function mutation. Tumor with this mutation responds to neratinib, a type of TKI which is against HER2 and EGFR.