ERBB2 G776L

Variant type

missense mutation

Location

Chromosome 17

Exon

20

Protein change

p.G776L

cDNA change

-

Genomic coordinate

Chromosome 17

FATHMM prediction

-

Variant category

I

Variant description

The HER2 mutant containing a G776 insertion in exon 20 was more potent than wild-type HER2 in associating with and activating signal transducers, phosphorylating EGFR, and inducing survival, invasiveness, and tumorigenicity. HER2was potently autophosphorylated and induced transphosphorylation of kinase-dead EGFR and HER3 as well as higher association with signal transducers that activate proliferative and antiapoptotic pathways compared to HER2WT. Cancer cells expressing this mutation remain sensitive to HER2-targeted therapies but insensitive to EGFR TKIs (PMID: 16843263).

Variant frequence

This section displays the distribution of mutated samples and tissue types (top 5).

Accoiciated drug