ERBB3 V104M
Gene Variant Detail

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Gene ERBB3
Variant V104M
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ERBB3 (HER3) V104M lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). V104M results in increased viability (PMID: 38751013), phosphorylation of Akt and Erk, and transformation in Erbb2 (Her2)-expressing cells in culture (PMID: 23680147), however, demonstrates cell proliferation and viability (PMID: 29533785) in the context of endogenous Erbb2 (Her2), and viability and downstream signaling in cells expressing ERBB2 (HER2) V956R (PMID: 38806620) similar to wild-type Erbb3 (Her3) in culture, and therefore, its effect on Erbb3 (Her3) protein function is unknown.
Associated Drug Resistance
Category Variants Paths

ERBB3 mutant ERBB3 V104M

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Transcript NM_001982.4
gDNA chr12:g.56085070G>A
cDNA c.310G>A
Protein p.V104M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001005915.1 chr12:g.56085070G>A c.310G>A p.V104M RefSeq GRCh38/hg38
NM_001982.4 chr12:g.56085070G>A c.310G>A p.V104M RefSeq GRCh38/hg38
NM_001982 chr12:g.56085070G>A c.310G>A p.V104M RefSeq GRCh38/hg38
NM_001005915 chr12:g.56085070G>A c.310G>A p.V104M RefSeq GRCh38/hg38
NM_001982.3 chr12:g.56085070G>A c.310G>A p.V104M RefSeq GRCh38/hg38
NM_001005915.1 chr12:g.56085070G>A c.310G>A p.V104M RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ERBB3 V104M Advanced Solid Tumor sensitive Lapatinib Preclinical Actionable In a preclinical study, Tykerb (lapatinib) inhibited proliferation and colony formation in transformed cell lines expressing ERBB3 (HER3) V104M (PMID: 23680147). 23680147
ERBB3 V104M urinary bladder cancer predicted - sensitive Afatinib Case Reports/Case Series Actionable In a Phase II clinical trial, a patient with ERBB3 V104M mutant urothelial carcinoma had improved progression free survival when treated with Gilotrif (afatinib), and median PFS was 6.6 months for patients with ERBB2 or ERBB3 alterations relative to 1.4 months for patients lacking alterations (PMID: 27044931). 27044931
ERBB3 V104M Advanced Solid Tumor sensitive Pertuzumab Preclinical - Cell culture Actionable In a preclinical study, Perjeta (pertuzumab) inhibited cell proliferation in transformed cell lines expressing ERBB3 (HER3) V104M in culture (PMID: 23680147). 23680147
ERBB3 V104M Advanced Solid Tumor sensitive Trastuzumab Preclinical - Cell culture Actionable In a preclinical study, Herceptin (trastuzumab) inhibited cell proliferation in transformed cell lines expressing ERBB3 (HER3) V104M in culture (PMID: 23680147). 23680147
ERBB3 V104M Advanced Solid Tumor sensitive Pictilisib Preclinical - Cell culture Actionable In a preclinical study, Pictilisib (GDC-0941) inhibited cell proliferation in transformed cell lines expressing ERBB3 (HER3) V104M in culture (PMID: 23680147). 23680147
ERBB3 V104M colon cancer sensitive Neratinib Preclinical - Cell culture Actionable In a preclinical study, Nerlynx (neratinib) treatment inhibited Erbb2 (Her2) phosphorylation and downstream signaling, and inhibited viability and proliferation in a colon cancer cell line harboring ERBB3 (HER3) V104M in culture (PMID: 38751013). 38751013
ERBB3 V104M colon cancer sensitive Tucatinib Preclinical - Cell culture Actionable In a preclinical study, Tukysa (tucatinib) treatment inhibited Erbb2 (Her2) phosphorylation and downstream signaling, and inhibited growth in a colon cancer cell line harboring ERBB3 (HER3) V104M in culture (PMID: 38751013). 38751013
ERBB3 V104M urinary bladder cancer sensitive Neratinib Preclinical - Cell culture Actionable In a preclinical study, Nerlynx (neratinib) treatment inhibited Erbb2 (Her2) phosphorylation and downstream signaling, and inhibited viability and proliferation in a bladder cancer cell line harboring ERBB3 (HER3) V104M in culture (PMID: 38751013). 38751013
ERBB3 V104M urinary bladder cancer sensitive Tucatinib Preclinical - Cell culture Actionable In a preclinical study, Tukysa (tucatinib) treatment inhibited Erbb2 (Her2) phosphorylation and downstream signaling, and inhibited growth in a bladder cancer cell line harboring ERBB3 (HER3) V104M in culture (PMID: 38751013). 38751013
ERBB3 V104M lung cancer sensitive Neratinib Preclinical - Cell culture Actionable In a preclinical study, Nerlynx (neratinib) treatment inhibited Erbb2 (Her2) phosphorylation and downstream signaling, and inhibited viability and colony formation in a lung cancer cell line harboring ERBB3 (HER3) V104M in culture (PMID: 38751013). 38751013
ERBB3 V104M lung cancer sensitive Tucatinib Preclinical - Cell culture Actionable In a preclinical study, Tukysa (tucatinib) treatment inhibited Erbb2 (Her2) phosphorylation and downstream signaling, and inhibited viability, proliferation, and colony formation in a lung cancer cell line harboring ERBB3 (HER3) V104M in culture (PMID: 38751013). 38751013
ERBB3 V104M colon cancer sensitive Alpelisib Preclinical - Cell culture Actionable In a preclinical study, Piqray (alpelisib) treatment inhibited proliferation of a colon cancer cell line harboring ERBB3 (HER3) V104M in culture (PMID: 38751013). 38751013
ERBB3 V104M urinary bladder cancer sensitive Alpelisib Preclinical - Cell culture Actionable In a preclinical study, Piqray (alpelisib) treatment inhibited proliferation of a bladder cancer cell line harboring ERBB3 (HER3) V104M in culture (PMID: 38751013). 38751013
ERBB3 V104M lung cancer sensitive Alpelisib Preclinical - Cell culture Actionable In a preclinical study, Piqray (alpelisib) treatment inhibited proliferation of a lung cancer cell line harboring ERBB3 (HER3) V104M in culture (PMID: 38751013). 38751013
ERBB3 V104M colon cancer sensitive Buparlisib Preclinical - Cell culture Actionable In a preclinical study, Buparlisib (BKM120) treatment inhibited proliferation of a colon cancer cell line harboring ERBB3 (HER3) V104M in culture (PMID: 38751013). 38751013
ERBB3 V104M urinary bladder cancer sensitive Buparlisib Preclinical - Cell culture Actionable In a preclinical study, Buparlisib (BKM120) treatment inhibited proliferation of a bladder cancer cell line harboring ERBB3 (HER3) V104M in culture (PMID: 38751013). 38751013
ERBB3 V104M lung cancer sensitive Buparlisib Preclinical - Cell culture Actionable In a preclinical study, Buparlisib (BKM120) treatment inhibited proliferation of a lung cancer cell line harboring ERBB3 (HER3) V104M in culture (PMID: 38751013). 38751013
ERBB3 V104M colon cancer sensitive SCH772984 Preclinical - Cell culture Actionable In a preclinical study, SCH772984 treatment inhibited proliferation of a colon cancer cell line harboring ERBB3 (HER3) V104M in culture (PMID: 38751013). 38751013
ERBB3 V104M urinary bladder cancer sensitive SCH772984 Preclinical - Cell culture Actionable In a preclinical study, SCH772984 treatment inhibited proliferation of a bladder cancer cell line harboring ERBB3 (HER3) V104M in culture (PMID: 38751013). 38751013
ERBB3 V104M lung cancer sensitive SCH772984 Preclinical - Cell culture Actionable In a preclinical study, SCH772984 treatment inhibited proliferation of a lung cancer cell line harboring ERBB3 (HER3) V104M in culture (PMID: 38751013). 38751013