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Gene Symbol KDR
Synonyms CD309 | FLK1 | VEGFR | VEGFR2
Gene Description KDR (VEGFR2), kinase insert domain receptor, is also known as vascular endothelial growth factor receptor 2 and is an endothelial cell surface receptor tyrosine kinase and member of the vascular endothelial growth factor family of proteins that plays a role in angiogenesis and cell proliferation through activation of RAF-MEK-MAP and PI3K-AKT pathways (PMID: 25568876, PMID: 29093528, PMID: 26578684). KDR amplification and overexpression have been reported in a variety of tumor types (PMID: 21382095, PMID: 27218826, PMID: 25231439, PMID: 20606037, PMID: 30819137) and somatic mutations have been reported in sarcomas and head and neck squamous cell carcinomas (PMID: 22314185, PMID: 11801954).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A1065T missense gain of function - predicted KDR (VEGFR2) A1065T lies within the protein kinase domain of the Kdr (Vegfr2) protein (UniProt.org). A1065T results in constitutive tyrosine autophosphorylation (PMID: 19723655), and therefore, is predicted to lead to a gain of Kdr (Vegfr2) protein function.
A19T missense unknown KDR (VEGFR2) A19T does not lie within any known functional domains of the Kdr (Vegfr2) protein (UniProt.org). A19T has not been characterized in the scientific literature and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
A248G missense unknown KDR (VEGFR2) A248G lies within Ig-like C2-type domain 3 of the Kdr (Vegfr2) protein (UniProt.org). A248G has been identified in sequencing studies (PMID: 26009992), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
A331G missense unknown KDR (VEGFR2) A331G lies within Ig-like C2-type domain 4 of the Kdr (Vegfr2) protein (UniProt.org). A331G has not been characterized in the scientific literature and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
A352V missense unknown KDR (VEGFR2) A352V lies within Ig-like C2-type domain 4 of the Kdr (Vegfr2) protein (UniProt.org). A352V has been identified in sequencing studies (PMID: 24352642, PMID: 25186949), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
A467T missense unknown KDR (VEGFR2) A467T lies within Ig-like C2-type domain 5 of the Kdr (Vegfr2) protein (UniProt.org). A467T has not been characterized in the scientific literature and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
A532V missense unknown KDR (VEGFR2) A532V lies within Ig-like C2-type domain 5 of the Kdr (Vegfr2) protein (UniProt.org). A532V has been identified in sequencing studies (PMID: 27149842, PMID: 32194744), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
A824T missense unknown KDR (VEGFR2) A824T lies within the cytoplasmic domain of the Kdr (Vegfr2) protein (UniProt.org). A824T has not been characterized in the scientific literature and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
A904G missense unknown KDR (VEGFR2) A904G lies within the protein kinase domain of the Kdr (Vegfr2) protein (UniProt.org). A904G has been identified in sequencing studies (PMID: 27683039), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
A973S missense unknown KDR (VEGFR2) A973S lies within the protein kinase domain of the Kdr (Vegfr2) protein (UniProt.org). A973S has been identified in sequencing studies (PMID: 26009992, PMID: 28188106), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
act mut unknown gain of function KDR act mut indicates that this variant results in a gain of function in the Kdr (Vegfr2) protein. However, the specific amino acid change has not been identified.
amp none no effect KDR (VEGFR2) amplification indicates an increased number of copies of the KDR (VEGFR2) gene. However, the mechanism causing the increase is unspecified.
C482R missense unknown KDR (VEGFR2) C482R lies within Ig-like C2-type domain 5 of the Kdr (Vegfr2) protein (UniProt.org). C482R results in ligand-independent dimerization and phosphorylation of Kdr (Vegfr2) in one study (PMID: 27052508), but demonstrates phosphorylation similar to wild-type protein in another study (PMID: 21712447), and fails to upregulate Vegfr1 expression or activate beta1 integrin in culture (PMID: 18931684), and therefore, its effect on Kdr (Vegfr2) protein function is unknown.
C688F missense unknown KDR (VEGFR2) C688F lies within Ig-like C2-type domain 7 of the Kdr (Vegfr2) protein (UniProt.org). C688F has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
C737Y missense unknown KDR (VEGFR2) C737Y lies within Ig-like C2-type domain 7 of the Kdr (Vegfr2) protein (UniProt.org). C737Y has been identified in sequencing studies (PMID: 28949453), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
D1174Y missense unknown KDR (VEGFR2) D1174Y lies within the cytoplasmic domain of the Kdr (Vegfr2) protein (UniProt.org). D1174Y has not been characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
D1241G missense unknown KDR (VEGFR2) D1241G lies within the cytoplasmic domain of the Kdr (Vegfr2) protein (UniProt.org). D1241G has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
D1241N missense unknown KDR (VEGFR2) D1241N lies within the cytoplasmic domain of the Kdr (Vegfr2) protein (UniProt.org). D1241N has been identified in sequencing studies (PMID: 31745173), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
D1254N missense unknown KDR (VEGFR2) D1254N lies within the cytoplasmic domain of the Kdr (Vegfr2) protein (UniProt.org). D1254N has not been characterized in the scientific literature and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
D180E missense unknown KDR (VEGFR2) D180E lies within Ig-like C2-type domain 2 of the Kdr (Vegfr2) protein (UniProt.org). D180E has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
D39Y missense unknown KDR (VEGFR2) D39Y lies within the extracellular domain of the Kdr (Vegfr2) protein (UniProt.org). D39Y has been identified in sequencing studies (PMID: 29338072, PMID: 22810696, PMID: 34083289), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
D558E missense unknown KDR (VEGFR2) D558E lies within Ig-like C2-type domain 6 of the Kdr (Vegfr2) protein (UniProt.org). D558E has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
D639Y missense unknown KDR (VEGFR2) D639Y lies within Ig-like C2-type domain 6 of the Kdr (Vegfr2) protein (UniProt.org). D639Y has been identified in sequencing studies (PMID: 30057548), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
D717V missense gain of function KDR (VEGFR2) D717V lies within Ig-like C2-type domain 7 of the Kdr (Vegfr2) protein (PMID: 19723655). D717V confers a gain of function to the Kdr (Vegfr2) protein as demonstrated by ligand-independent tyrosine autophosphorylation in cultured cells (PMID: 19723655), and tumor formation in mouse models (PMID: 29588308).
D832Y missense unknown KDR (VEGFR2) D832Y lies within the cytoplasmic domain of the Kdr (Vegfr2) protein (UniProt.org). D832Y has not been characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Jul 2024).
D97N missense unknown KDR (VEGFR2) D97N lies within Ig-like C2-type domain 1 of the Kdr (Vegfr2) protein (UniProt.org). D97N has been identified in sequencing studies (PMID: 31745173), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
D985N missense unknown KDR (VEGFR2) D985N lies within the protein kinase domain of the Kdr (Vegfr2) protein (UniProt.org). D985N has been identified in sequencing studies (PMID: 27245685, PMID: 28822769, PMID: 26010451), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
D998N missense unknown KDR (VEGFR2) D998N lies within the protein kinase domain of the Kdr (Vegfr2) protein (UniProt.org). D998N has not been characterized in the scientific literature and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
E1114* nonsense unknown KDR (VEGFR2) E1114* results in a premature truncation of the Kdr (Vegfr2) protein at amino acid 1114 of 1356 (UniProt.org). E1114* has been identified in sequencing studies (PMID: 29338072, PMID: 31672974), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
E1325* nonsense unknown KDR (VEGFR2) E1325* results in a premature truncation of the Kdr (Vegfr2) protein at amino acid 1325 of 1356 (UniProt.org). E1325* has not been characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
E469K missense unknown KDR (VEGFR2) E469K lies within Ig-like C2-type domain 5 of the Kdr (Vegfr2) protein (UniProt.org). E469K has been identified in sequencing studies (PMID: 18186519, PMID: 26343386), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
E685K missense unknown KDR (VEGFR2) E685K lies within Ig-like C2-type domain 7 of the Kdr (Vegfr2) protein (UniProt.org). E685K has been identified in sequencing studies (PMID: 31745173), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
E732K missense unknown KDR (VEGFR2) E732K lies within Ig-like C2-type domain 7 of the Kdr (Vegfr2) protein (UniProt.org). E732K has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
E749K missense unknown KDR (VEGFR2) E749K lies within Ig-like C2-type domain 7 of the Kdr (Vegfr2) protein (UniProt.org). E749K has been identified in sequencing studies (PMID: 31745173, PMID: 33692861), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
E759V missense unknown KDR (VEGFR2) E759V lies within the extracellular domain of the Kdr (Vegfr2) protein (UniProt.org). E759V has not been characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
F1115C missense unknown KDR (VEGFR2) F1115C lies within the protein kinase domain of the Kdr (Vegfr2) protein (UniProt.org). F1115C has not been characterized in the scientific literature and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
F921C missense unknown KDR (VEGFR2) F921C lies within the protein kinase domain of the Kdr (Vegfr2) protein (UniProt.org). F921C has not been characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
G1015D missense unknown KDR (VEGFR2) G1015D lies within the protein kinase domain of the Kdr (Vegfr2) protein (UniProt.org). G1015D has been identified in sequencing studies (PMID: 29705968), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
G1145E missense unknown KDR (VEGFR2) G1145E lies within the protein kinase domain of the Kdr (Vegfr2) protein (UniProt.org). G1145E has been identified in sequencing studies (PMID: 29399405, PMID: 27683183, PMID: 25314059), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Jul 2024).
G1145R missense unknown KDR (VEGFR2) G1145R lies within the protein kinase domain of the Kdr (Vegfr2) protein (UniProt.org). G1145R has been identified in sequencing studies (PMID: 29681454, PMID: 27683039, PMID: 23907151), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
G1304D missense unknown KDR (VEGFR2) G1304D lies within the cytoplasmic domain of the Kdr (Vegfr2) protein (UniProt.org). G1304D has been identified in sequencing studies (PMID: 30239046), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
G1308* nonsense unknown KDR (VEGFR2) G1308* results in a premature truncation of the Kdr (Vegfr2) protein at amino acid 1308 of 1356 (UniProt.org). G1308* has been identified in sequencing studies (PMID: 26009992), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
G1308R missense unknown KDR (VEGFR2) G1308R lies within the cytoplasmic domain of the Kdr (Vegfr2) protein (UniProt.org). G1308R has been identified in sequencing studies (PMID: 25056374, PMID: 25231023), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
G394E missense unknown KDR (VEGFR2) G394E lies within Ig-like C2-type domain 4 of the Kdr (Vegfr2) protein (UniProt.org). G394E has not been characterized in the scientific literature and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
G394R missense unknown KDR (VEGFR2) G394R lies within Ig-like C2-type domain 4 of the Kdr (Vegfr2) protein (UniProt.org). G394R has not been characterized in the scientific literature and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
G509E missense unknown KDR (VEGFR2) G509E lies within Ig-like C2-type domain 5 of the Kdr (Vegfr2) protein (UniProt.org). G509E has been identified in sequencing studies (PMID: 25759019, PMID: 31745173, PMID: 29990500), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
G509R missense unknown KDR (VEGFR2) G509R lies within Ig-like C2-type domain 5 of the Kdr (Vegfr2) protein (UniProt.org). G509R has been identified in sequencing studies (PMID: 31745173), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
G539R missense gain of function - predicted KDR (VEGFR2) G539R lies within Ig-like C2-type domain 5 of the Kdr (Vegfr2) protein (UniProt.org). G539R is associated with increased expression of Kdr (Vegfr2) and increased ligand-dependent Erk phosphorylation in cell culture (PMID: 30761385), and therefore, is predicted to lead to a gain of Kdr (Vegfr2) protein function.
G55E missense loss of function KDR (VEGFR2) G55E lies within Ig-like C2-type domain 1 of the Kdr (Vegfr2) protein (UniProt.org). G55E results in decreased expression of Kdr (Vegfr2), reduced basal level and ligand-dependent Erk phosphorylation in cell culture (PMID: 30761385).
G671R missense unknown KDR (VEGFR2) G671R lies within Ig-like C2-type domain 7 of the Kdr (Vegfr2) protein (UniProt.org). G671R has been identified in sequencing studies (PMID: 31745173), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
G800D missense gain of function - predicted KDR (VEGFR2) G800D lies within the cytoplasmic domain of the Kdr (Vegfr2) protein (UniProt.org). G800D results in tumor formation in mouse models (PMID: 29588308), and therefore, is predicted to lead to a gain of Kdr (Vegfr2) protein function.
G800R missense gain of function - predicted KDR (VEGFR2) G800R lies within the cytoplasmic domain of the Kdr (Vegfr2) protein (UniProt.org). G800R results in tumor formation in mouse models (PMID: 29588308), and therefore, is predicted to lead to a gain of Kdr (Vegfr2) protein function.
G843D missense gain of function - predicted KDR (VEGFR2) G843D lies within the protein kinase domain of the Kdr (Vegfr2) protein (UniProt.org). G843D results in tumor formation in mouse models (PMID: 29588308), and therefore, is predicted to lead to a gain of Kdr (Vegfr2) protein function.
G846D missense unknown KDR (VEGFR2) G846D lies within the protein kinase domain of the Kdr (Vegfr2) protein (UniProt.org). G846D has not been characterized in the scientific literature and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
G873R missense unknown KDR (VEGFR2) G873R lies within the protein kinase domain of the Kdr (Vegfr2) protein (UniProt.org). G873R has been identified in sequencing studies (PMID: 26009992, PMID: 26295973, PMID: 16959974), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
H1026N missense unknown KDR (VEGFR2) H1026N lies within the protein kinase domain of the Kdr (Vegfr2) protein (UniProt.org). H1026N has not been characterized in the scientific literature and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
H375Y missense unknown KDR (VEGFR2) H375Y lies within Ig-like C2-type domain 4 of the Kdr (Vegfr2) protein (UniProt.org). H375Y has not been characterized in the scientific literature and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
H457Y missense unknown KDR (VEGFR2) H457Y lies within Ig-like C2-type domain 5 of the Kdr (Vegfr2) protein (UniProt.org). H457Y has been identified in sequencing studies (PMID: 31745173), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
I1077L missense unknown KDR (VEGFR2) I1077L lies within the protein kinase domain of the Kdr (Vegfr2) protein (UniProt.org). I1077L has not been characterized in the scientific literature and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
I192F missense unknown KDR (VEGFR2) I192F lies within Ig-like C2-type domain 2 of the Kdr (Vegfr2) protein (UniProt.org). I192F has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
I543F missense unknown KDR (VEGFR2) I543F lies within Ig-like C2-type domain 5 of the Kdr (Vegfr2) protein (UniProt.org). I543F has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
K286N missense unknown KDR (VEGFR2) K286N lies within Ig-like C2-type domain 3 of the Kdr (Vegfr2) protein (UniProt.org). K286N has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
K353N missense unknown KDR (VEGFR2) K353N lies within Ig-like C2-type domain 4 of the Kdr (Vegfr2) protein (UniProt.org). K353N has not been characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
K366T missense unknown KDR (VEGFR2) K366T lies within Ig-like C2-type domain 4 of the Kdr (Vegfr2) protein (UniProt.org). K366T has not been characterized in the scientific literature and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
L1049W missense unknown KDR (VEGFR2) L1049W lies within the protein kinase domain of the Kdr (Vegfr2) protein (UniProt.org). L1049W has been identified in the scientific literature (PMID: 29588308), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
L1140M missense unknown KDR (VEGFR2) L1140M lies within the protein kinase domain of the Kdr (Vegfr2) protein (UniProt.org). L1140M has been identified in sequencing studies (PMID: 26009992), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
L1156S missense unknown KDR (VEGFR2) L1156S lies within the protein kinase domain of the Kdr (Vegfr2) protein (UniProt.org). L1156S has been identified in sequencing studies (PMID: 31745173), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
L1184F missense unknown KDR (VEGFR2) L1184F lies within the cytoplasmic domain of the Kdr (Vegfr2) protein (UniProt.org). L1184F has not been characterized in the scientific literature and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
L371fs frameshift loss of function - predicted KDR (VEGFR2) L371fs results in a change in the amino acid sequence of the Kdr protein beginning at aa 371 of 1356, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), L371fs is predicted to lead to a loss of Kdr (Vegfr2) protein function.
L462V missense unknown KDR (VEGFR2) L462V lies within Ig-like C2-type domain 5 of the Kdr (Vegfr2) (UniProt.org). L462V has been identified in sequencing studies (PMID: 27974047, PMID: 27997549, PMID: 17344846), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
L840F missense unknown KDR (VEGFR2) L840F lies within the protein kinase domain of the Kdr (Vegfr2) protein (UniProt.org). L840F is associated with resistance to Kdr (Vegfr2) inhibitors (PMID: 29588308), and results in reduced kinase activity in culture, but demonstrates Erk activation and tumor formation in mouse models (PMID: 29588308), and therefore, its effect on Kdr (Vegfr2) protein function is unknown. Y
L889F missense unknown KDR (VEGFR2) L889F lies within the protein kinase domain of the Kdr (Vegfr2) protein (UniProt.org). L889F has been identified in sequencing studies (PMID: 27149842, PMID: 29208673), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
M1016K missense unknown KDR (VEGFR2) M1016K lies within the protein kinase domain of the Kdr (Vegfr2) protein (UniProt.org). M1016K has not been characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
M285I missense unknown KDR (VEGFR2) M285I lies within Ig-like C2-type domain 3 of the Kdr (Vegfr2) protein (UniProt.org). M285I has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
mutant unknown unknown KDR mutant indicates an unspecified mutation in the KDR (VEGFR2) gene.
over exp none no effect KDR (VEGFR2) over exp indicates an over expression of the Kdr (Vegfr2) protein and/or mRNA. However, the mechanism causing the over expression is unspecified.
P1147S missense unknown KDR (VEGFR2) P1147S lies within the protein kinase domain of the Kdr (Vegfr2) protein (UniProt.org). P1147S has been identified in the scientific literature (PMID: 11807987, PMID: 28196074), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
P1210L missense unknown KDR (VEGFR2) P1210L lies within the cytoplasmic domain of the Kdr (Vegfr2) protein (UniProt.org). P1210L has been identified in sequencing studies (PMID: 26009992, PMID: 31604779), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
P1210S missense unknown KDR (VEGFR2) P1210S lies within the cytoplasmic domain of the Kdr (Vegfr2) protein (UniProt.org). P1210S has been identified in sequencing studies (PMID: 28467829), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Jul 2024).
P1355del deletion unknown KDR (VEGFR2) P1355del results in the deletion of an amino acid in the cytoplasmic domain of the Kdr (Vegfr2) protein at amino acid 1355 (UniProt.org). P1355del has been identified in sequencing studies (PMID: 26009992), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
P1355S missense unknown KDR (VEGFR2) P1355S lies within the cytoplasmic domain of the Kdr (Vegfr2) protein (UniProt.org). P1355S has not been characterized in the scientific literature and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Jul 2024).
P32L missense unknown KDR (VEGFR2) P32L lies within the extracellular domain of the Kdr (Vegfr2) protein (UniProt.org). P32L has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
P359H missense unknown KDR (VEGFR2) P359H lies within Ig-like C2-type domain 4 of the Kdr (Vegfr2) protein (UniProt.org). P359H has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
P421L missense unknown KDR (VEGFR2) P421L lies within Ig-like C2-type domain 5 of the Kdr (Vegfr2) protein (UniProt.org). P421L has not been characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
P453fs frameshift unknown KDR (VEGFR2) P453fs results in a change in the amino acid sequence of the Kdr (Vegfr2) protein beginning at aa 453 of 1356, likely resulting in premature truncation of the functional protein (UniProt.org). P453fs has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
P453L missense unknown KDR (VEGFR2) P453L lies within Ig-like C2-type domain 5 of the Kdr (Vegfr2) protein (UniProt.org). P453L has been identified in sequencing studies (PMID: 30200630), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
P551S missense unknown KDR (VEGFR2) P551S lies within Ig-like C2-type domain 6 of the Kdr (Vegfr2) protein (UniProt.org). P551S has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
positive unknown unknown KDR (VEGFR2) positive indicates the presence of the KDR gene, mRNA, and/or protein.
Q37H missense unknown KDR (VEGFR2) Q37H lies within the extracellular domain of the Kdr (Vegfr2) protein (UniProt.org). Q37H has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
Q472H missense gain of function KDR (VEGFR2) Q472H lies within Ig-like C2-type domain 5 of the Kdr (Vegfr2) protein (UniProt.org). Q472H is a common Kdr polymorphism (PMID: 33099473, PMID: 24990411) and confers a gain of function to the Kdr (Vegfr2) protein, resulting in increased phosphorylation of Kdr (Vegfr2) in cell culture, increased serum VEGF levels, increased microvessel density in tumor samples (PMID: 21712447, PMID: 26631613), and increased cell proliferation and tumor growth in mouse models (PMID: 38201446).
R1022Q missense gain of function - predicted KDR (VEGFR2) R1022Q lies within the protein kinase domain of the Kdr (Vegfr2) protein (UniProt.org). R1022Q results in tumor formation in mouse models (PMID: 29588308), and therefore, is predicted to lead to a gain of Kdr (Vegfr2) protein function.
R1032* nonsense unknown KDR (VEGFR2) R1032* results in a premature truncation of the Kdr (Vegfr2) protein at amino acid 1032 of 1356 (UniProt.org). R1032* has been identified in sequencing studies (PMID: 22976956, PMID: 22895193, PMID: 22014273), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
R1032Q missense unknown KDR (VEGFR2) R1032Q lies within the protein kinase domain of the Kdr (Vegfr2) protein (UniProt.org). R1032Q results in decreased ligand-induced phosphorylation of Kdr (Vegfr2) and Mapk in cell culture (PMID: 28743916), but induces tumor growth in mouse models above wild-type protein (PMID: 29588308), and therefore, its effect on Kdr (Vegfr2) protein function is unknown.
R1051W missense unknown KDR (VEGFR2) R1051W lies within the protein kinase domain of the Kdr (Vegfr2) protein (UniProt.org). R1051W has been identified in sequencing studies (PMID: 30239046), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
R1118* nonsense unknown KDR (VEGFR2) R1118* results in a premature truncation of the Kdr (Vegfr2) protein at amino acid 1118 of 1356 (UniProt.org). R1118* has been identified in sequencing studies (PMID: 24140581), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Jul 2024).
R1124I missense unknown KDR (VEGFR2) R1124I lies within the protein kinase domain of the Kdr (Vegfr2) protein (UniProt.org). R1124I has been identified in sequencing studies (PMID: 31672974), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
R1124K missense unknown KDR (VEGFR2) R1124K lies within the protein kinase domain of the Kdr (Vegfr2) protein (UniProt.org). R1124K has not been characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
R1150I missense unknown KDR (VEGFR2) R1150I lies within the protein kinase domain of the Kdr (Vegfr2) protein (UniProt.org). R1150I has not been characterized in the scientific literature and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
R1229Q missense unknown KDR (VEGFR2) R1229Q lies within the cytoplasmic domain of the Kdr (Vegfr2) protein (UniProt.org). R1229Q has been identified in sequencing studies (PMID: 27149842, PMID: 33320972), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
R164I missense unknown KDR (VEGFR2) R164I lies within Ig-like C2-type domain 2 of the Kdr (Vegfr2) protein (UniProt.org). R164I has not been characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
R275* nonsense loss of function - predicted KDR (VEGFR2) R275* results in a premature truncation of the Kdr (Vegfr2) protein at amino acid 275 of 1356 (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), R275* is predicted to lead to a loss of Kdr (Vegfr2) protein function.
R275L missense unknown KDR (VEGFR2) R275L lies within Ig-like C2-type domain 3 of the Kdr (Vegfr2) protein (UniProt.org). R275L has been identified in sequencing studies (PMID: 16959974, PMID: 26009992), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
R347C missense unknown KDR (VEGFR2) R347C lies within Ig-like C2-type domain 4 of the Kdr (Vegfr2) protein (UniProt.org). R347C has been identified in sequencing studies (PMID: 29386642, PMID: 27149842, PMID: 25801821), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
R347H missense unknown KDR (VEGFR2) R347H lies within Ig-like C2-type domain 4 of the Kdr (Vegfr2) protein (UniProt.org). R347H has been identified in sequencing studies (PMID: 24356096, PMID: 23263491, PMID: 30680068), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
R57T missense unknown KDR (VEGFR2) R57T lies within Ig-like C2-type domain 1 of the Kdr (Vegfr2) protein (UniProt.org). R57T has been identified in sequencing studies (PMID: 28634282, PMID: 31745173), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
R73M missense unknown KDR (VEGFR2) R73M lies within Ig-like C2-type domain 1 of the Kdr (Vegfr2) protein (UniProt.org). R73M has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
R787W missense unknown KDR (VEGFR2) R787W lies within the cytoplasmic domain of the Kdr (Vegfr2) protein (UniProt.org). R787W has been identified in sequencing studies (PMID: 24265153, PMID: 30239046), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
R791Q missense unknown KDR (VEGFR2) R791Q lies within the cytoplasmic domain of the Kdr (Vegfr2) protein (UniProt.org). R791Q has been identified in sequencing studies (PMID: 30239046, PMID: 33054063), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
R791W missense unknown KDR (VEGFR2) R791W lies within the cytoplasmic domain of the Kdr (Vegfr2) protein (UniProt.org). R791W has been identified in sequencing studies (PMID: 30239046), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
R819* nonsense unknown KDR (VEGFR2) R819* results in a premature truncation of the Kdr (Vegfr2) protein at amino acid 819 of 1356 (UniProt.org). R819* has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
R819Q missense unknown KDR (VEGFR2) R819Q lies within the cytoplasmic domain of the Kdr (Vegfr2) protein (UniProt.org). R819Q has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
R929K missense unknown KDR (VEGFR2) R929K lies within the protein kinase domain of the Kdr (Vegfr2) protein (UniProt.org). R929K has been identified in sequencing studies (PMID: 27683039), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
R932I missense unknown KDR (VEGFR2) R932I lies within the protein kinase domain of the Kdr (Vegfr2) protein (UniProt.org). R932I has been identified in the scientific literature (PMID: 31672974), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
R944Q missense unknown KDR (VEGFR2) R944Q lies within the protein kinase domain of the Kdr (Vegfr2) protein (UniProt.org). R944Q has been identified in sequencing studies (PMID: 26343386, PMID: 31745173), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
R946C missense unknown KDR (VEGFR2) R946C lies within the protein kinase domain of the Kdr (Vegfr2) protein (UniProt.org). R946C has been identified in sequencing studies (PMID: 30503610, PMID: 24943349), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Jul 2024).
R946H missense unknown KDR (VEGFR2) R946H lies within the protein kinase domain of the Kdr (Vegfr2) protein (UniProt.org). R946H has been identified in sequencing studies (PMID: 31328403), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Jul 2024).
R961W missense unknown KDR (VEGFR2) R961W lies within the protein kinase domain of the Kdr (Vegfr2) protein (UniProt.org). R961W has been identified in the scientific literature (PMID: 27004155, PMID: 25031014, PMID: 28188106), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
R962H missense unknown KDR (VEGFR2) R962H lies within the protein kinase domain of the Kdr (Vegfr2) protein (UniProt.org). R962H has been identified in sequencing studies (PMID: 22675565, PMID: 28069802, PMID: 27077911), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
rearrange unknown unknown KDR rearrange indicates an unspecified rearrangement of the KDR gene.
S1021L missense unknown KDR (VEGFR2) S1021L lies within the protein kinase domain of the Kdr (Vegfr2) protein (UniProt.org). S1021L has been identified in sequencing studies (PMID: 33054063), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
S1037L missense unknown KDR (VEGFR2) S1037L lies within the protein kinase domain of the Kdr (Vegfr2) protein (UniProt.org). S1037L has been identified in sequencing studies (PMID: 28188106), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
S1037T missense unknown KDR (VEGFR2) S1037T lies within the protein kinase domain of the Kdr (Vegfr2) protein (UniProt.org). S1037T has been identified in sequencing studies (PMID: 28188106), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
S1100F missense unknown KDR (VEGFR2) S1100F lies within the protein kinase domain of the Kdr (Vegfr2) protein (UniProt.org). S1100F results in decreased ligand-induced phosphorylation of Kdr (Vegfr2) and Mapk in cell culture (PMID: 28743916), but induces increased tumor growth in a mouse model (PMID: 29588308), and therefore, its effect on Kdr (Vegfr2) protein function is unknown.
S1221N missense unknown KDR (VEGFR2) S1221N lies within the cytoplasmic domain of the Kdr (Vegfr2) protein (UniProt.org). S1221N has not been characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
S1231N missense unknown KDR (VEGFR2) S1231N lies within the cytoplasmic domain of the Kdr (Vegfr2) protein (UniProt.org). S1231N has not been characterized in the scientific literature and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
S265L missense unknown KDR (VEGFR2) S265L lies within Ig-like C2-type domain 3 of the Kdr (Vegfr2) protein (UniProt.org). S265L has been identified in sequencing studies (PMID: 27121310, PMID: 27149842, PMID: 31419435), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
S26G missense unknown KDR (VEGFR2) S26G lies within the extracellular domain of the Kdr (Vegfr2) protein (UniProt.org). S26G has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
S338Y missense unknown KDR (VEGFR2) S338Y lies within Ig-like C2-type domain 4 of the Kdr (Vegfr2) protein (UniProt.org). S338Y has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
S35I missense unknown KDR (VEGFR2) S35I lies within the extracellular domain of the Kdr (Vegfr2) protein (UniProt.org). S35I has not been characterized in the scientific literature and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
S633F missense unknown KDR (VEGFR2) S633F lies within Ig-like C2-type domain 6 of the Kdr (Vegfr2) protein (UniProt.org). S633F has been identified in sequencing studies (PMID: 31745173), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Feb 2024).
S925F missense gain of function - predicted KDR (VEGFR2) S925F lies within the protein kinase domain of the Kdr (Vegfr2) protein (UniProt.org). S925F results intumor formation in mouse models (PMID: 29588308), and therefore, is predicted to lead to a gain of Kdr (Vegfr2) protein function.
S984T missense unknown KDR (VEGFR2) S984T lies within the protein kinase domain of the Kdr (Vegfr2) protein (UniProt.org). S984T has been identified in sequencing studies (PMID: 26009992), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
T1152M missense unknown KDR (VEGFR2) T1152M lies within the protein kinase domain of the Kdr (Vegfr2) protein (UniProt.org). T1152M has been identified in sequencing studies (PMID: 28915716), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
T1258M missense unknown KDR (VEGFR2) T1258M lies within the cytoplasmic domain of the Kdr (Vegfr2) protein (UniProt.org). T1258M has been identified in sequencing studies (PMID: 23071490, PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
T1317I missense unknown KDR (VEGFR2) T1317I lies within the cytoplasmic domain of the Kdr (Vegfr2) protein (UniProt.org). T1317I has been identified in sequencing studies (PMID: 31672974), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
T139N missense unknown KDR (VEGFR2) T139N lies within the extracellular domain of the Kdr (Vegfr2) protein (UniProt.org). T139N has not been characterized in the scientific literature and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
T343M missense unknown KDR (VEGFR2) T343M lies within Ig-like C2-type domain 4 of the Kdr (Vegfr2) protein (UniProt.org). T343M has been identified in sequencing studies (PMID: 24145436), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
T761M missense unknown KDR (VEGFR2) T761M lies within the extracellular domain of the Kdr (Vegfr2) protein (UniProt.org). T761M has been identified in sequencing studies (PMID: 26644315, PMID: 27683039, PMID: 30239046), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
T771M missense unknown KDR (VEGFR2) T771M lies within the transmembrane domain of the Kdr (Vegfr2) protein (UniProt.org). T771M has been identified in sequencing studies (PMID: 30239046, PMID: 30635337, PMID: 25801821), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
T771R missense unknown KDR (VEGFR2) T771R lies within the transmembrane domain of the Kdr (Vegfr2) protein (UniProt.org). T771R has been identified in the scientific literature (PMID: 26422291, PMID: 19723655, PMID: 32123305), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Jul 2024).
T940I missense unknown KDR (VEGFR2) T940I lies within the protein kinase domain of the Kdr (Vegfr2) protein (UniProt.org). T940I has not been characterized in the scientific literature and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
V1041M missense unknown KDR (VEGFR2) V1041M lies within the protein kinase domain of the Kdr (Vegfr2) protein (UniProt.org). V1041M has been identified in sequencing studies (PMID: 23292937, PMID: 18772396), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Jul 2024).
V159M missense unknown KDR (VEGFR2) V159M lies within Ig-like C2-type domain 2 of the Kdr (Vegfr2) protein (UniProt.org). V159M has been identified in the scientific literature (PMID: 34829431), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
V218I missense unknown KDR (VEGFR2) V218I lies within the extracellular domain of the Kdr (Vegfr2) protein (UniProt.org). V218I has been identified in sequencing studies (PMID: 30200630, PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
V254G missense unknown KDR (VEGFR2) V254G lies within Ig-like C2-type domain 3 of the Kdr (Vegfr2) protein (UniProt.org). V254G has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
V297I missense unknown KDR (VEGFR2) V297I lies within Ig-like C2-type domain 3 of the Kdr (Vegfr2) protein (UniProt.org). V297I does not affect Kdr (Vegfr2) phosphorylation levels in cell culture in one study (PMID: 21712447), however in another study, results in reduced binding to Vegf in culture (PMID: 17707181), and therefore, its effect on Kdr (Vegfr2) protein function is unknown.
V476L missense unknown KDR (VEGFR2) V476L lies within Ig-like C2-type domain 5 of the Kdr (Vegfr2) protein (UniProt.org). V476L has been identified in sequencing studies (PMID: 26009992), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
V547M missense unknown KDR (VEGFR2) V547M lies within Ig-like C2-type domain 5 of the Kdr (Vegfr2) protein (UniProt.org). V547M has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
V655M missense unknown KDR (VEGFR2) V655M lies within Ig-like C2-type domain 6 of the Kdr (Vegfr2) protein (UniProt.org). V655M has been identified in sequencing studies (PMID: 27499925, PMID: 30239046), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
V769A missense unknown KDR (VEGFR2) V769A lies within the transmembrane domain of the Kdr (Vegfr2) protein (UniProt.org). V769A has been identified in sequencing studies (PMID: 30503610), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Jul 2024).
V805I missense unknown KDR (VEGFR2) V805I lies within the cytoplasmic domain of the Kdr (Vegfr2) protein (UniProt.org). V805I has been identified in sequencing studies (PMID: 19734198, PMID: 30239046), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
W1096* nonsense unknown KDR (VEGFR2) W1096* results in a premature truncation of the Kdr (Vegfr2) protein at amino acid 1096 of 1356 (UniProt.org). W1096* has been identified in sequencing studies (PMID: 27149842, PMID: 31745173), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
W1096L missense unknown KDR (VEGFR2) W1096L lies within the protein kinase domain of the Kdr (Vegfr2) protein (UniProt.org). W1096L has not been characterized in the scientific literature and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
W1096R missense unknown KDR (VEGFR2) W1096R lies within the protein kinase domain of the Kdr (Vegfr2) protein (UniProt.org). W1096R has not been characterized in the scientific literature and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
W485* nonsense loss of function - predicted KDR (VEGFR2) W485* results in a premature truncation of the Kdr (Vegfr2) protein at amino acid 485 of 1356 (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), W485* is predicted to lead to a loss of Kdr (Vegfr2) protein function.
W610* nonsense loss of function - predicted KDR (VEGFR2) W610* results in a premature truncation of the Kdr (Vegfr2) protein at amino acid 610 of 1356 (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), W610* is predicted to lead to a loss of Kdr (Vegfr2) protein function.
wild-type none no effect Wild-type KDR (VEGFR2) indicates that no mutation has been detected within the KDR (VEGFR2) gene.
Y105C missense unknown KDR (VEGFR2) Y105C lies within Ig-like C2-type domain 1 of the Kdr (Vegfr2) protein (UniProt.org). Y105C has been identified in sequencing studies (PMID: 27149842, PMID: 25344691), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
Y365H missense unknown KDR (VEGFR2) Y365H lies within Ig-like C2-type domain 4 of the Kdr (Vegfr2) protein (UniProt.org). Y365H has not been characterized in the scientific literature and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
Y528S missense unknown KDR (VEGFR2) Y528S lies within Ig-like C2-type domain 5 of the Kdr (Vegfr2) protein (UniProt.org). Y528S has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).
Y822C missense unknown KDR (VEGFR2) Y822C lies within the cytoplasmic domain of the Kdr (Vegfr2) protein (UniProt.org). Y822C has not been characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2024).