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Gene Detail

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Gene Symbol ERBB3
Synonyms c-erbB-3 | c-erbB3 | ErbB-3 | erbB3-S | FERLK | HER3 | LCCS2 | MDA-BF-1 | p180-ErbB3 | p45-sErbB3 | p85-sErbB3 | VSCN1
Gene Description ERBB3, erb-b2 receptor tyrosine kinase 3, encodes HER3, which is one of three ERBB members of the EGFR receptor tyrosine kinase family, which activates PI3K-AKT-mTOR and RAS-RAF-MEK-ERK pathways to promote cell survival and proliferation (PMID: 17471238). Activating Erbb3 mutations have been observed in a several tumor types, including lung and gastric and colon adenocarcinomas (PMID: 31519989) and Erbb3 mutations are also associated with acquired drug resistance (PMID: 31351986).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
2065 12 12q13.2 NM_001982 Oncogene (PMID: 30606230)

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A1337T missense gain of function ERBB3 (HER3) A1337T lies within the cytoplasmic domain of the Erbb3 (Her3) protein (UniProt.org). A1337T results in increased Erbb3 (Her3) signaling and cell proliferation in response to growth factor stimulation in the presence of Erbb2 (Her2) in cell culture, and leads to defective erythroid differentiation (PMID: 27416908).
A232T missense unknown ERBB3 (HER3) A232T lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). A232T has been identified in the scientific literature (PMID: 29718453), but has not been biochemically characterized and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Mar 2024).
A232V missense gain of function ERBB3 (HER3) A232V lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org, PMID: 23680147). A232V confers a gain of Erbb3 (Her3) protein function, resulting in phosphorylation of Akt and Erk, as well as oncogenic transformation of Erbb2 (Her2) expressing cells (PMID: 23680147).
A676T missense gain of function - predicted ERBB3 (HER3) A676T lies within the cytoplasmic domain of the Erbb3 (Her3) protein (UniProt.org). A676T results in increased IL3-independent growth upon co-expression with ERBB2 (HER2) V956R, an impaired activator of homodimerization, in culture (PMID: 38806620), and therefore, is predicted to lead to a gain of Erbb3 (Her3) protein function.
act mut unknown gain of function ERBB3 (HER3) act mut indicates that this variant results in a gain of function in the Erbb3 (Her3) protein. However, the specific amino acid change has not been identified.
amp none no effect ERBB3 (HER3) amp indicates an increased number of copies of the ERBB3 (HER3) gene. However, the mechanism causing the increase is unspecified.
C1241R missense unknown ERBB3 (HER3) C1241R lies within the cytoplasmic domain of the Erbb3 (Her3) protein (UniProt.org). C1241R results in increased focus formation and IL3-independent growth in one of three cell lines upon co-expression with ERBB2 (HER2) V956R, an impaired activator of homodimerization, in culture (PMID: 38806620), but has not been fully biochemically characterized and therefore, its effect on Erbb3 (Her3) protein function is unknown.
D1320H missense unknown ERBB3 (HER3) D1320H lies within the cytoplasmic domain of the Erbb3 (Her3) protein (UniProt.org). D1320H has been identified in sequencing studies (PMID: 36230824), but has not been biochemically characterized and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Mar 2024).
D297A missense unknown ERBB3 (HER3) D297A lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). D297A has not been characterized in the scientific literature and therefore, is effect on Erbb3 (Her3) protein function is unknown (PubMed, Mar 2024).
D297H missense unknown ERBB3 (HER3) D297H lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). D297H has been identified in the scientific literature (PMID: 33473169, PMID: 28336552), but has not been biochemically characterized and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Mar 2024).
D297N missense unknown ERBB3 (HER3) D297N lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). D297N has not been characterized in the scientific literature and therefore, is effect on Erbb3 (Her3) protein function is unknown (PubMed, Mar 2024).
D297V missense unknown ERBB3 (HER3) D297V lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). D297V has been identified in the scientific literature (PMID: 31624127), but has not been biochemically characterized and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Mar 2024).
D297Y missense unknown ERBB3 (HER3) D297Y lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). The functional effect of D297Y is conflicting as it demonstrates increased cell proliferation, but not elevated downstream signaling in ER-positive breast cancer cells; however, leads to increased cell proliferation and downstream signaling in Erbb2 (Her2)-overexpressing cells relative to wild-type (PMID: 29963236), and in another study results in similar cell proliferation and viability levels as wild-type Erbb3 (Her3) (PMID: 29533785), and therefore, its effect on Erbb3 (Her3) protein function is unknown.
D313H missense no effect - predicted ERBB3 (HER3) D313H lies within the extracellular domain of the Erbb3 (Her3) protein (PMID: 29963236). D313H results in cell proliferation levels similar to wild-type Erbb3 (Her3) in culture (PMID: 29963236), and therefore, is predicted to have no effect on Erbb3 (Her3) protein function.
D581N missense gain of function ERBB3 (HER3) D581N lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). D581N confers a gain of function on the Erbb3 (Her3) protein as demonstrated by increased downstream signaling, proliferation and colony formation in culture, and enhanced tumor growth in mouse models (PMID: 29954840).
D797V missense gain of function - predicted ERBB3 (HER3) D797V lies within the protein kinase domain of the Erbb3 (Her3) protein (UniProt.org). D797V results in increased focus formation when individually expressed and IL3-independent growth upon co-expression with ERBB2 (HER2) V956R, an impaired activator of homodimerization, in one of three cell lines in culture (PMID: 38806620), and therefore, is predicted to lead to a gain of Erbb3 (Her3) protein function.
D922Y missense unknown ERBB3 (HER3) D922Y lies within the protein kinase domain of the Erbb3 (Her3) protein (UniProt.org). D922Y has not been characterized in the scientific literature and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Mar 2024).
dec exp none no effect ERBB3 (HER3) dec exp indicates decreased expression of the Erbb3 (Her3) protein. However, the mechanism causing the decreased expression is unspecified.
E1191D missense unknown ERBB3 (HER3) E1191D lies within the cytoplasmic domain of the Erbb3 (Her3) protein (UniProt.org). E1191D has not been characterized in the scientific literature and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Mar 2024).
E1261A missense unknown ERBB3 (HER3) E1261A lies within the cytoplasmic domain of the Erbb3 (Her3) protein (UniProt.org). The functional effect of E1261A is conflicting as it demonstrates cell proliferation levels similar to wild-type Erbb3 (Her3) in ER-positive breast cancer cells, but results in both increased cell proliferation and Erbb3 (Her3) phosphorylation relative to wild-type in Erbb2 (Her2)-overexpressing breast cancer cells (PMID: 29963236), and therefore, its effect on Erbb3 (Her3) protein function is unknown.
E332K missense gain of function - predicted ERBB3 (HER3) E332K lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). E332K results in increased focus formation compared to wild-type Erbb3 (Her3) when individually expressed and increased IL3-independent growth upon co-expression with ERBB2 (HER2) V956R, an impaired activator of homodimerization, in culture (PMID: 38806620), and therefore, is predicted to lead to a gain of Erbb3 (Her3) protein function.
E332Q missense unknown ERBB3 (HER3) E332Q lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). E332Q has not been characterized in the scientific literature and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Mar 2024).
E480Q missense unknown ERBB3 (HER3) E480Q lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). E480Q has been identified in sequencing studies (PMID: 29420467), but has not been biochemically characterized and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Mar 2024).
E928A missense gain of function - predicted ERBB3 (HER3) E928A lies within the protein kinase domain of the Erbb3 (Her3) protein (UniProt.org). E928A (reported as E909A) results in increased Erbb2 (Her2) activation in cell culture (PMID: 23843458), and therefore, is predicted to lead to a gain of Erbb3 (Her3) protein function.
E928fs frameshift loss of function - predicted ERBB3 (HER3) E928fs results in a change in the amino acid sequence of the Erbb3 (Her3) protein beginning at aa 928 of 1342, likely resulting in premature truncation of the functional protein (UniProt.org). E928fs (reported as E928fs*16) results in basal level Erbb3 (Her3) phosphorylation comparable to wild-type protein, but fails to transactivate coexpressed Erbb2 (Her2) in the presence of ligand, and is not transforming in culture (PMID: 33323455), and therefore, is predicted to lead to a loss of Erbb3 (Her3) protein function.
E928G missense gain of function ERBB3 (HER3) E928G lies within the protein kinase domain of the Erbb3 (Her3) protein (UniProt.org). E928G confers a gain of Erbb3 (Her3) protein function, resulting in phosphorylation of Akt and Erk, as well as oncogenic transformation of Erbb2 (Her2) expressing cells (PMID: 23680147) and increased IL3-independent growth upon co-expression with ERBB2 (HER2) V956R, an impaired activator of homodimerization, in culture (PMID: 38806620).
E928K missense gain of function - predicted ERBB3 (HER3) E928K lies within the protein kinase domain of the Erbb3 (Her3) protein (UniProt.org). E928K (reported as E909K) results in increased Erbb2 (Her2) activation in cell culture (PMID: 23843458), and therefore, is predicted to lead to a gain of Erbb3 (Her3) protein function.
E928Q missense unknown ERBB3 (HER3) E928Q lies within the protein kinase domain of the Erbb3 (Her3) protein (UniProt.org). E928Q has not been characterized and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Jan 2024).
E952Q missense unknown ERBB3 (HER3) E952Q lies within the protein kinase domain of the Erbb3 (Her3) protein (UniProt.org). E952Q (reported as E933Q) results in increased ligand-dependent kinase activity in one study (PMID: 26378253), but demonstrates basal level phosphorylation comparable to wild-type protein, fails to transactivate coexpressed Erbb2 (Her2) in the presence of ligand, and is not transforming in culture (PMID: 33323455) and therefore, its effect on Erbb3 (Her3) protein function is unknown.
F219C missense unknown ERBB3 (HER3) F219C lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). F219C has not been characterized in the scientific literature and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Mar 2024).
F94L missense unknown ERBB3 (HER3) F94L lies within the extracellular domain of the Erbb3 (Her3) protein (PMID: 29963236). The functional effect of F94L is conflicting as it does not result in increased cell proliferation relative to wild-type Erbb3 (Her3) in ER-positive breast cancer cells, but leads to elevated cell proliferation when expressed in Erbb2 (Her2)-overexpressing cells in culture (PMID: 29963236), and therefore, its effect on Erbb3 (Her3) protein function is unknown.
fusion fusion unknown ERBB3 (HER3) fusion indicates a fusion of the ERBB3 (HER3) gene, but the fusion partner is unknown.
G1221D missense unknown ERBB3 (HER3) G1221D lies within the cytoplasmic domain of the Erbb3 (Her3) protein (UniProt.org). G1221D has not been characterized in the scientific literature and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Mar 2024).
G233W missense unknown ERBB3 (HER3) G233W lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). G233W has been identified in sequencing studies (PMID: 29420467), but has not been biochemically characterized and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Mar 2024).
G253R missense unknown ERBB3 (HER3) G253R lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). G253R has not been characterized in the scientific literature and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Dec 2023).
G284R missense unknown ERBB3 (HER3) G284R lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). G284R results in increased phosphorylation of Akt and Erk, as well as oncogenic transformation of Erbb2 (Her2)-expressing cells relative to wild-type Erbb3 (Her3) (PMID: 23680147) and leads to increased cell proliferation in Erbb2 (Her2)-overexpressing cells in culture (PMID: 29963236), but has not been individually characterized and therefore, its effect on Erbb3 (Her3) protein function is unknown.
G325R missense unknown ERBB3 (HER3) G325R lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). G325R has been identified in the scientific literature (PMID: 35503762), but has not been biochemically characterized and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Dec 2023).
G337R missense unknown ERBB3 (HER3) G337R lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). G337R has been identified in the scientific literature (PMID: 36969051), but has not been biochemically characterized and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Apr 2024).
G40S missense no effect - predicted ERBB3 (HER3) G40S lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). G40S has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Erbb3 (Her3) (PMID: 29533785).
G420V missense unknown ERBB3 (HER3) G420V lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). G420V has been identified in sequencing studies (PMID: 28069802), but has not been biochemically characterized and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Mar 2024).
G513C missense unknown ERBB3 (HER3) G513C lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). G513C has not been characterized in the scientific literature and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Mar 2024).
G513D missense unknown ERBB3 (HER3) G513D lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). G513D has been identified in sequencing studies (PMID: 23741632, PMID: 29487696), but has not been biochemically characterized and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Apr 2024).
G898D missense unknown ERBB3 (HER3) G898D lies within the protein kinase domain of the Erbb3 (Her3) protein (UniProt.org). G898D has not been characterized and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Mar 2024).
H228Q missense unknown ERBB3 (HER3) H228Q lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). H228Q has been identified in sequencing studies (PMID: 30393068), but has not been biochemically characterized and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Mar 2024).
H228R missense unknown ERBB3 (HER3) H228R lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). H228R has been identified in sequencing studies (PMID: 31959546), but has not been biochemically characterized and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Mar 2024).
H584L missense gain of function - predicted ERBB3 (HER3) H584L lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). H584L results in increased focus formation when expressed alone and IL3-independent growth upon co-expression with ERBB2 (HER2) V956R, an impaired activator of homodimerization, in one of three cell lines in culture (PMID: 38806620), and therefore, is predicted to lead to a gain of Erbb3 (Her3) protein function.
H768R missense unknown ERBB3 (HER3) H768R lies within the protein kinase domain of the Erbb3 (Her3) protein (UniProt.org). H768R has not been characterized and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Mar 2024).
H884R missense unknown ERBB3 (HER3) H884R lies within the protein kinase domain of the Erbb3 (Her3) protein (UniProt.org). H884R has not been characterized in the scientific literature and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Mar 2024).
inact mut unknown loss of function ERBB3 (HER3) inact mut indicates that this variant results in a loss of function of the Erbb3 (Her3) protein. However, the specific amino acid change has not been identified.
K279N missense gain of function - predicted ERBB3 (HER3) K279N lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). K279N results in increased focus formation compared to wild-type Erbb3 (Her3) when individually expressed and increased IL3-independent growth upon co-expression with ERBB2 (HER2) V956R, an impaired activator of homodimerization, in culture (PMID: 38806620), and therefore, is predicted to lead to a gain of Erbb3 (Her3) protein function.
K329E missense unknown ERBB3 (HER3) K329E lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). K329E has been identified in the scientific literature (PMID: 30181556, PMID: 29338072, PMID: 30709382), but has not been biochemically characterized and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Mar 2024).
K329R missense unknown ERBB3 (HER3) K329R lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). K392R results in increased focus formation and IL3-independent growth in one of three cell lines upon co-expression with ERBB2 (HER2) V956R, an impaired activator of homodimerization, in culture (PMID: 38806620), but has not been fully biochemically characterized and therefore, its effect on Erbb3 (Her3) protein function is unknown.
K329T missense no effect - predicted ERBB3 (HER3) K329T lies within the extracellular domain of the Erbb3 (Her3) protein (PMID: 29963236). K329T results in cell proliferation levels similar to wild-type Erbb3 (Her3) in culture (PMID: 29963236), and therefore, is predicted to have no effect on Erbb3 (Her3) protein function.
K742E missense unknown ERBB3 (HER3) K742E lies within the protein kinase domain of the Erbb3 (Her3) protein (UniProt.org). K742E has been identified in the scientific literature (PMID: 29963236), but has not been biochemically characterized and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Mar 2024).
K820N missense unknown ERBB3 (HER3) K820N lies within the protein kinase domain of the Erbb3 (Her3) protein (UniProt.org). K820N has not been characterized in the scientific literature and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Mar 2024).
L1027M missense unknown ERBB3 (HER3) L1027M lies within the cytoplasmic domain of the Erbb3 (Her3) protein (UniProt.org). L1027M has not been characterized in the scientific literature and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Mar 2024).
L1177I missense unknown ERBB3 (HER3) L1177I lies within the cytoplasmic domain of the Erbb3 (Her3) protein (UniProt.org). L1177I has been identified in sequencing studies (PMID: 25922291, PMID: 27997549, PMID: 34829431), but has not been biochemically characterized and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Mar 2024).
L155I missense unknown ERBB3 (HER3) L155I lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). L155I has not been characterized in the scientific literature and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Mar 2024).
L431S missense unknown ERBB3 (HER3) L431S lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). L431S has not been characterized in the scientific literature and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Mar 2024).
L482P missense unknown ERBB3 (HER3) L482P lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). L482P results in increased focus formation and IL3-independent growth in two of three cell lines upon co-expression with ERBB2 (HER2) V956R, an impaired activator of homodimerization, in culture (PMID: 38806620), but has not been fully biochemically characterized and therefore, its effect on Erbb3 (Her3) protein function is unknown.
L792V missense no effect - predicted ERBB3 (HER3) L792V lies within the protein kinase domain of the Erbb3 (Her3) protein (PMID: 29963236). L792V results in cell proliferation levels similar to wild-type Erbb3 (Her3) in culture (PMID: 29963236), and therefore, is predicted to have no effect on Erbb3 (Her3) protein function.
L795V missense unknown ERBB3 (HER3) L795V lies within the protein kinase domain of the Erbb3 (Her3) protein (UniProt.org). L795V has been identified in the scientific literature (PMID: 23741632), but has not been biochemically characterized and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Jan 2024).
M60K missense unknown ERBB3 (HER3) M60K lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). M60K has been identified in the scientific literature (PMID: 25401468, PMID: 29338072), but has not been biochemically characterized and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Mar 2024).
M60R missense unknown ERBB3 (HER3) M60R lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). M60R has been identified in the scientific literature (PMID: 30181556, PMID: 26011570), but has not been biochemically characterized and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Mar 2024).
M677I missense unknown ERBB3 (HER3) M677I lies within the cytoplasmic domain of the Erbb3 (Her3) protein (UniProt.org). M677I has been identified in sequencing studies (PMID: 25407104), but has not been biochemically characterized and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Mar 2024).
M91I missense unknown ERBB3 (HER3) M91I lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). M91I has been identified in the scientific literature (PMID: 30709382, PMID: 28388586, PMID: 29338072), but has not been biochemically characterized and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Dec 2023).
mutant unknown unknown ERBB3 (HER3) mutant indicates an unspecified mutation in the ERBB3 (Her3) gene.
N126I missense unknown ERBB3 (HER3) N126I lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). N126I has been identified in sequencing studies (PMID: 23525077), but has not been biochemically characterized and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Mar 2024).
N126K missense unknown ERBB3 (HER3) N126K lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). N126K has been identified in the scientific literature (PMID: 29963236, PMID: 27602491, PMID: 32632529), but has not been biochemically characterized and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Mar 2024).
N353T missense gain of function - predicted ERBB3 (HER3) N353T lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). N353T results in increased IL3-independent growth upon co-expression with ERBB2 (HER2) V956R, an impaired activator of homodimerization, in culture (PMID: 38806620), and therefore, is predicted to lead to a gain of Erbb3 (Her3) protein function.
N697fs frameshift loss of function - predicted ERBB3 (HER3) N697fs results in a change in the amino acid sequence of the Erbb3 (Her3) protein beginning at aa 697 of 1342, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), N697fs is predicted to lead to a loss of Erbb3 (Her3) function.
over exp none no effect ERBB3 (HER3) over exp indicates an over expression of the Erbb3 (Her3) protein. However, the mechanism causing the over expression is unspecified.
P1142H missense unknown ERBB3 (HER3) P1142H lies within the cytoplasmic domain of the Erbb3 (Her3) protein (UniProt.org). P1142H has been identified in the scientific literature (PMID: 29963236, PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Mar 2024).
P1212S missense unknown ERBB3 (HER3) P1212S lies within the cytoplasmic domain of the Erbb3 (Her3) protein (UniProt.org). P1212S has been identified in the scientific literature (PMID: 26214590, PMID: 29338072, PMID: 29902295), but has not been biochemically characterized and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Jan 2024).
P212L missense unknown ERBB3 (HER3) P212L lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). P212L results in increased focus formation and IL3-independent growth in one of three cell lines upon co-expression with ERBB2 (HER2) V956R, an impaired activator of homodimerization, in culture (PMID: 38806620), but has not been fully biochemically characterized and therefore, its effect on Erbb3 (Her3) protein function is unknown.
P262H missense gain of function ERBB3 (HER3) P262H lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). P262H confers a gain of Erbb3 (Her3) protein function, resulting in phosphorylation of Akt and Erk, as well as oncogenic transformation of Erbb2 (Her2) expressing cells (PMID: 23680147).
P262S missense unknown ERBB3 (HER3) P262S lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). P262S has been identified in the scientific literature (PMID: 29712892), but has not been biochemically characterized and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Mar 2024).
P306H missense unknown ERBB3 (HER3) P306H lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). P306H has been identified in sequencing studies (PMID: 29420467, PMID: 28487883), but has not been biochemically characterized and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Mar 2024).
P30L missense unknown ERBB3 (HER3) P30L lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). P30L has been identified in the scientific literature (PMID: 23741632, PMID: 31752449), but has not been biochemically characterized and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Mar 2024).
P590H missense gain of function ERBB3 (HER3) P590H lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). P590H confers a gain of function on the Erbb3 (Her3) protein as demonstrated by increased downstream signaling, proliferation and colony formation in culture, and enhanced tumor growth in mouse models (PMID: 29954840).
positive unknown unknown ERBB3 (HER3) positive indicates the presence of the ERBB3 (HER3) gene, mRNA, and/or protein.
Q225T missense unknown ERBB3 (HER3) Q225T lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). Q225T has not been characterized in the scientific literature and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Dec 2023).
Q261* nonsense loss of function - predicted ERBB3 (HER3) Q261* results in a premature truncation of the Erbb3 (Her3) protein at amino acid 261 of 1342 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), Q261* is predicted to lead to a loss of Erbb3 (Her3) protein function.
Q809R missense gain of function ERBB3 (HER3) Q809R lies within the protein kinase domain of the Erbb3 (Her3) protein (UniProt.org). Q809R confers a gain of Erbb3 (Her3) protein function, resulting in phosphorylation of Akt and Erk, as well as oncogenic transformation of Erbb2 (Her2) expressing cells (PMID: 23680147).
R103G missense unknown ERBB3 (HER3) R103G lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). R103G has been identified in the scientific literature (PMID: 27044931), but has not been biochemically characterized and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Apr 2024).
R103H missense unknown ERBB3 (HER3) R103H lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). R103H has been identified in the scientific literature (PMID: 29902295), but has not been biochemically characterized and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Mar 2024).
R170* nonsense loss of function - predicted ERBB3 (HER3) R170* results in a premature truncation of the Erbb3 (Her3) protein at amino acid 170 of 1342 (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), R170* is predicted to lead to a loss of Erbb3 (Her3) protein function.
R193* nonsense loss of function - predicted ERBB3 (HER3) R193* results in a premature truncation of the Erbb3 (Her3) protein at amino acid 193 of 1342 (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), R193* is predicted to lead to a loss of Erbb3 (Her3) protein function.
R426W missense gain of function - predicted ERBB3 (HER3) R426W lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). R426W results in Erbb2 (Her2)-dependent increase of cell proliferation in culture (PMID: 24997986), and therefore, is predicted to lead to a gain of Erbb3 (Her3) protein function.
R475W missense unknown ERBB3 (HER3) R475W lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). R475W has been identified in the scientific literature (PMID: 26371421, PMID: 33473169), but has not been biochemically characterized and therefore, its effect on Erbb3 (HER3) protein function is unknown (PubMed, Mar 2024).
R521Q missense unknown ERBB3 (HER3) R521Q lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). R521Q has not been characterized in the scientific literature and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Mar 2024).
R580* nonsense loss of function - predicted ERBB3 (HER3) R580* results in a premature truncation of the Erbb3 (Her3) protein at amino acid 580 of 1342 (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), R580* is predicted to lead to a loss of Erbb3 (Her3) protein function.
R667H missense unknown ERBB3 (HER3) R667H lies within the cytoplasmic domain of the Erbb3 (Her3) protein (UniProt.org). R667H has been identified in the scientific literature (PMID: 29963236, PMID: 29420467, PMID: 29718453), but has not been biochemically characterized and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Mar 2024).
R683W missense unknown ERBB3 (HER3) R683W lies within the cytoplasmic domain of the Erbb3 (Her3) protein (UniProt.org). R683W has been identified in the scientific literature (PMID: 23741632, PMID: 17344846, PMID: 31476489), but has not been biochemically characterized and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Mar 2024).
R967A missense loss of function - predicted ERBB3 (HER3) R967A lies within the protein kinase domain of the Erbb3 (Her3) protein (UniProt.org). R967A (reported as R948A) results in a modest decrease of Erbb2 (Her2) activation in cell culture (PMID: 23843458), and therefore, is predicted to lead to a loss of Erbb3 (Her3) protein function.
R967K missense no effect - predicted ERBB3 (HER3) R967K lies within the protein kinase domain of the Erbb3 (Her3) protein (UniProt.org). R967K (reported as R948K) does not significantly affect Erbb2 (Her2) activation in cell culture (PMID: 23843458), and therefore, is predicted to have no effect on Erbb3 (Her3) protein function.
S1119C missense unknown ERBB3 (HER3) S1119C lies within the cytoplasmic domain of the Erbb3 (Her3) protein (UniProt.org). S1119C has been identified in the scientific literature (PMID: 30071039), but has not been biochemically characterized and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Jan 2024).
S1215R missense unknown ERBB3 (HER3) S1215R lies within the cytoplasmic domain of the Erbb3 (Her3) protein (UniProt.org). S1215R has been identified in the scientific literature (PMID: 35138918), but has not been biochemically characterized and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Dec 2023).
S1234C missense unknown ERBB3 (HER3) S1234C lies within the cytoplasmic domain of the Erbb3 (Her3) protein (UniProt.org). S1234C has been identified in the scientific literature (PMID: 35477796), but has not been biochemically characterized and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Apr 2024).
S128R missense unknown ERBB3 (HER3) S128R lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). S128R has been identified in sequencing studies (PMID: 29316426, PMID: 34178989), but has not been biochemically characterized and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Apr 2024).
S345L missense unknown ERBB3 (HER3) S345L lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). S345L has been identified in sequencing studies (PMID: 33774767), but has not been biochemically characterized and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Apr 2024).
S445F missense unknown ERBB3 (HER3) S445F lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). S445F has been identified in sequencing studies (PMID: 26699486), but has not been biochemically characterized and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Jan 2024).
S846I missense gain of function ERBB3 (HER3) S846I lies within the protein kinase domain of the Erbb3 (Her3) protein (UniProt.org). S846I confers a gain of Erbb3 (Her3) protein function, resulting in phosphorylation of Akt and Erk, as well as oncogenic transformation of Erbb2 (Her2) expressing cells (PMID: 23680147).
T355A missense unknown ERBB3 (HER3) T355A lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). T355A has been identified in the scientific literature (PMID: 29338072, PMID: 29967250, PMID: 29420467), but has not been biochemically characterized and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Jan 2024).
T355I missense gain of function ERBB3 (HER3) T355I lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). T355I confers a gain of function to the Erbb3 (Her3) protein as demonstrated by increased proliferation of ER-positive cells as compared to wild-type ERBB3 (HER3), increased phosphorylation of downstream signaling molecules, and activation of the MAPK pathway in culture (PMID: 29963236).
T355P missense unknown ERBB3 (HER3) T355P lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). T355P has not been characterized in the scientific literature and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Apr 2024).
T389K missense gain of function ERBB3 (HER3) T389K lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). T389K confers a gain of Erbb3 (Her3) protein function, resulting in phosphorylation of Akt and Erk, as well as oncogenic transformation of Erbb2 (Her2) expressing cells (PMID: 23680147).
V1035D missense gain of function - predicted ERBB3 (HER3) V1035D lies within the cytoplasmic domain of the Erbb3 (Her3) protein (UniProt.org). V1035D results in Erbb2 (Her2)-dependent increase of cell proliferation in culture (PMID: 24997986), and therefore, is predicted to lead to a gain of Erbb3 (Her3) protein function.
V104L missense gain of function 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).
V104M missense unknown ERBB3 (HER3) V104M lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). V104M results in phosphorylation of Akt and Erk, and transformation of Erbb2 (Her2)-expressing cells in culture (PMID: 23680147), however, V104M results in similar cell proliferation and viability levels as wild-type Erbb3 (Her3) in another study (PMID: 29533785), and therefore, its effect on Erbb3 (Her3) protein function is unknown.
V1112A missense unknown ERBB3 (HER3) V1112A lies within the cytoplasmic domain of the Erbb3 (Her3) protein (UniProt.org). V1112A has been identified in sequencing studies (PMID: 30885352), but has not been biochemically characterized and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Jan 2024).
V119I missense unknown ERBB3 (HER3) V119I lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). V119I has not been characterized in the scientific literature and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Mar 2024).
V264A missense unknown ERBB3 (HER3) V264A lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). V264A has been identified in the scientific literature (PMID: 30181556), but has not been biochemically characterized and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Mar 2024).
V295A missense unknown ERBB3 (HER3) V295A lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). V295A has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Mar 2024).
V606A missense unknown ERBB3 (HER3) V606A lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). V606A has not been characterized in the scientific literature and therefore, its effect on Erbb3 (Her3) protein function is unknown (PubMed, Mar 2024).
V714M missense no effect ERBB3 (HER3) V714M lies within the protein kinase domain of the Erbb3 (Her3) protein (UniProt.org). V714M demonstrates growth promotion and transforming ability in the presence of Erbb2 (Her2) similar to wild-type Erbb3 (Her3) in culture (PMID: 23680147).
V855A missense gain of function ERBB3 (HER3) V855A lies within the activation loop of the Erbb3 (Her3) protein (PMID: 26689995). V855A confers a gain of function to Erbb3 (Her3), as indicated by increased NRG1-beta induced cell growth in the presence of wild-type ERBB2 (HER2), increased interaction with ERBB2 (HER2), and increased ERBB2 (HER2) trans-phosphorylation in cell culture (PMID: 26689995).
wild-type none no effect Wild-type ERBB3 (HER3) indicates that no mutation has been detected within the ERBB3 (HER3) gene.
Y265C missense unknown ERBB3 (HER3) Y265C lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). T265C results in increased focus formation and IL3-independent growth in one of three cell lines upon co-expression with ERBB2 (HER2) V956R, an impaired activator of homodimerization, in culture (PMID: 38806620), but has not been fully biochemically characterized and therefore, its effect on Erbb3 (Her3) protein function is unknown.
Y789fs frameshift unknown ERBB3 (HER3) Y789fs results in a change in the amino acid sequence of the Erbb3 (Her3) protein beginning at aa 789 of 1342, likely resulting in premature truncation of the functional protein (UniProt.org). Y789fs results in reduced Erbb3 (Her3) mRNA and protein levels in culture (PMID: 38369013), but has not been fully biochemically characterized and therefore, its effect on Erbb3 (Her3) protein function is unknown.