ERBB3 V104L
Gene Variant Detail

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Gene ERBB3
Variant V104L
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions ERBB3 (HER3) V104L lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). V104L confers a gain of function to the Erbb3 (Her3) protein as demonstrated by increased phosphorylation of Erbb3 (Her3) and downstream signaling (PMID: 24909266, PMID: 38751013), increased colony formation, migration (PMID: 29954840), and proliferation in culture (PMID: 29954840, PMID: 38751013), and enhanced tumor growth in mouse models (PMID: 29954840).
Associated Drug Resistance
Category Variants Paths

ERBB3 mutant ERBB3 act mut ERBB3 V104L

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Transcript NM_001982.4
gDNA chr12:g.56085070G>C
cDNA c.310G>C
Protein p.V104L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001005915 chr12:g.56085070G>C c.310G>C p.V104L RefSeq GRCh38/hg38
NM_001982.4 chr12:g.56085070G>C c.310G>C p.V104L RefSeq GRCh38/hg38
NM_001005915.1 chr12:g.56085070G>C c.310G>C p.V104L RefSeq GRCh38/hg38
NM_001982 chr12:g.56085070G>C c.310G>C p.V104L RefSeq GRCh38/hg38
NM_001005915.1 chr12:g.56085070G>C c.310G>C p.V104L RefSeq GRCh38/hg38
NM_001982.3 chr12:g.56085070G>C c.310G>C p.V104L RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ERBB3 V104L gastric adenocarcinoma predicted - sensitive Irinotecan + Pyrotinib Case Reports/Case Series Actionable In a clinical case study, combination treatment Camptosar (irinotecan) and Pyrotinib in a patient with metastatic gastric adenocarcinoma harboring ERBB3 V104L, who had relapsed on prior treatment with chemotherapy, led to stable disease and a progression-free survival of 7.6 months (PMID: 33500629). 33500629
ERBB3 V104L breast cancer sensitive Patritumab deruxtecan Preclinical - Cell culture Actionable In a preclinical study, Patritumab deruxtecan (U3-1402) treatment inhibited growth of a breast cancer cell line expressing ERBB3 (HER3) V104L in culture (PMID: 35503762). 35503762
ERBB3 V104L Her2-receptor positive breast cancer sensitive Neratinib Preclinical - Cell culture Actionable In a preclinical study, Nerlynx (neratinib) treatment inhibited activation of Erbb2 (Her2) and decreased viability and proliferation in an ERBB2 (HER2)-positive breast cancer cell line expressing ERBB3 (HER3) V104L in culture (PMID: 38751013). 38751013
ERBB3 V104L Her2-receptor positive breast cancer sensitive Tucatinib Preclinical - Cell culture Actionable In a preclinical study, Tukysa (tucatinib) treatment inhibited activation of Erbb2 (Her2) and decreased viability and proliferation in an ERBB2 (HER2)-positive breast cancer cell line expressing ERBB3 (HER3) V104L in culture (PMID: 38751013). 38751013
ERBB3 V104L Her2-receptor positive breast cancer sensitive Afatinib Preclinical - Cell culture Actionable In a preclinical study, Gilotrif (afatinib) treatment inhibited activation of Erbb2 (Her2) and decreased viability and proliferation in an ERBB2 (HER2)-positive breast cancer cell line expressing ERBB3 (HER3) V104L in culture (PMID: 38751013). 38751013