Gene Detail

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Variant	Impact	Protein Effect	Variant Description	Associated with drug Resistance
A450E	missense	unknown	FLT3 A450E lies within the extracellular domain of the Flt3 protein (UniProt.org). A450E has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Jul 2024).
A627P	missense	unknown	FLT3 A627P lies within the protein kinase domain of the Flt3 protein (UniProt.org). A627P has been demonstrated to confer resistance to FLT3 inhibitors (PMID: 22858906), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2024).	Y
A627T	missense	unknown	FLT3 A627T lies within the protein kinase domain of the Flt3 protein (UniProt.org). A627T has been identified as a drug resistance mutation (PMID: 15374944, PMID: 17620426), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Dec 2023).	Y
A680fs	frameshift	loss of function - predicted	FLT3 A680fs results in a change in the amino acid sequence of the Flt3 protein beginning at aa 680 of 993, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the majority of the protein kinase domain (UniProt.org), A680fs is predicted to lead to a loss of Flt3 protein function.
A680V	missense	gain of function	FLT3 A680V lies within the N-terminal kinase domain of the Flt3 protein (PMID: 15976757). A680V results in autophosphorylation of Flt3 (ASH, 2015, abstract no. 87) and leads to IL-3 independent growth in culture (PMID: 33563661).
A814S	missense	unknown	FLT3 A814S lies within the protein kinase domain of the Flt3 protein (UniProt.org). A814S has been identified in the scientific literature (PMID: 33283233), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2024).
A848P	missense	gain of function - predicted	FLT3 A848P lies within the protein kinase domain of the Flt3 protein (UniProt.org). A848P results in growth factor independent cell proliferation, Flt3 phosphorylation, and Erk activation in culture (Blood; 2009, 114;22, Abstract #3982), and has been demonstrated to confer resistance to FLT3 inhibitors in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations in culture (PMID: 20520641), and therefore, is predicted to lead to a gain of Flt3 protein function.	Y
A914D	missense	unknown	FLT3 A914D lies within the protein kinase domain of the Flt3 protein (UniProt.org). A914D has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Jul 2024).
act mut	unknown	gain of function	FLT3 act mut indicates that this variant results in a gain of function in the Flt3 protein. However, the specific amino acid change has not been identified.
amp	none	no effect	FLT3 amplification indicates an increased number of copies of the FLT3 gene. However, the mechanism causing the increase is unspecified.
C184*	nonsense	loss of function - predicted	FLT3 C184* results in a premature truncation of the Flt3 protein at amino acid 184 of 993 (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), C184* is predicted to lead to a loss of Flt3 protein function.
C35S	missense	unknown	FLT3 C35S lies within the extracellular domain of the Flt3 protein (UniProt.org). C35S has been identified in the scientific literature (PMID: 31088841), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Jan 2024).
C681S	missense	unknown	FLT3 C681S lies within the protein kinase domain of the Flt3 protein (UniProt.org). C681S does not alter dimerization but moderately reduces Flt3 kinase activity and phosphorylation of Flt3, Stat5, and Erk, and transformation activity in the context of FLT3 internal tandem duplication (FLT3-ITD) in cultured cells (PMID: 31606550), but has not been individually characterized and therefore, its effect on Flt3 protein function is unknown.
C694S	missense	unknown	FLT3 C694S lies within the protein kinase domain of the Flt3 protein (UniProt.org). C694S does not alter dimerization but results in decreased kinase activity, phosphorylation of Flt3, Stat5, and Erk, and transformation in the context of FLT3 internal tandem duplication (FLT3-ITD) in cultured cells (PMID: 31606550), but has not been individually characterized and therefore, its effect on Flt3 protein function is unknown.
C695S	missense	unknown	FLT3 C695S lies within the protein kinase domain of the Flt3 protein (UniProt.org). C695S does not alter kinase activity, dimerization, or phosphorylation of Flt3 or Erk, results in decreased viability, transformation, and Stat5 phosphorylation in the context of FLT3 internal tandem duplication (FLT3-ITD) in cultured cells (PMID: 31606550), and has been demonstrated to confer resistance to some FLT3 inhibitors (PMID: 29187377), but has not been individually characterized and therefore, its effect on Flt3 protein function is unknown.	Y
C790S	missense	gain of function - predicted	FLT3 C790S lies within the protein kinase domain of the Flt3 protein (UniProt.org). C790S does not alter kinase activity, dimerization, cytokine-independent growth, or phosphorylation of Flt3 or Erk but results in increased colony formation and phosphorylation of Stat5 in the context of FLT3 internal tandem duplication (FLT3-ITD) and results in increased kinase activity compared to wild-type Flt3 in cultured cells (PMID: 31606550), and therefore, is predicted to lead to a gain of Flt3 protein function.
C807A	missense	unknown	FLT3 C807A lies within the protein kinase domain of the Flt3 protein (UniProt.org). C807A does not alter kinase activity in the context of FLT3 internal tandem duplication (FLT3-ITD) in cultured cells (PMID: 31606550), but has not been individually characterized and therefore, its effect on Flt3 protein function is unknown.
C807S	missense	unknown	FLT3 C807S lies within the protein kinase domain of the Flt3 protein (UniProt.org). C807S does not alter kinase activity or dimerization but results in decreased transformation and phosphorylation of Flt3, Stat5, and Erk in the context of FLT3 internal tandem duplication (FLT3-ITD) in cultured cells (PMID: 31606550), but has not been individually characterized and therefore, its effect on Flt3 protein function is unknown.
C828A	missense	unknown	FLT3 C828A lies within the protein kinase domain of the Flt3 protein (UniProt.org). C828A does not alter kinase activity in the context of FLT3 internal tandem duplication (FLT3-ITD) in cultured cells (PMID: 31606550), but has not been individually characterized and therefore, its effect on Flt3 protein function is unknown.
C828S	missense	unknown	FLT3 C828S lies within the protein kinase domain of the Flt3 protein (UniProt.org). C828S does not alter kinase activity, dimerization, transformation, or phosphorylation of Flt3, Erk, or Stat5 when stably expressed in the context of FLT3 internal tandem duplication (FLT3-ITD) in cultured cells (PMID: 31606550), but has not been individually characterized and therefore, its effect on Flt3 protein function is unknown.
C925A	missense	unknown	FLT3 C925A lies within the protein kinase domain of the Flt3 protein (UniProt.org). C925A results in decreased kinase activity in the context of FLT3 internal tandem duplication (FLT3-ITD) in cultured cells (PMID: 31606550), but has not been individually characterized and therefore, its effect on Flt3 protein function is unknown.
C925S	missense	unknown	FLT3 C925S lies within the protein kinase domain of the Flt3 protein (UniProt.org). C925S does not alter dimerization but results in decreased kinase activity, transformation, viability, and phosphorylation of Flt3, Stat5, and Erk in the context of FLT3 internal tandem duplication (FLT3-ITD) in cultured cells (PMID: 31606550), but has not been individually characterized and therefore, its effect on Flt3 protein function is unknown.
C945S	missense	unknown	FLT3 C945S lies within the cytoplasmic domain of the Flt3 protein (UniProt.org). C945S does not alter dimerization but moderately reduces Flt3 kinase activity and phosphorylation of Flt3, Stat5, and Erk, and transformation activity in the context of FLT3 internal tandem duplication (FLT3-ITD) in cultured cells (PMID: 31606550), but has not been individually characterized and therefore, its effect on Flt3 protein function is unknown.
D200N	missense	no effect - predicted	FLT3 D200N lies within the extracellular domain of the Flt3 protein (UniProt.org). D200N is not transforming in cell culture (PMID: 30651561), and therefore, is predicted to have no effect on Flt3 protein function.
D324N	missense	no effect - predicted	FLT3 D324N lies within the Ig-like C2-type domain of the Flt3 protein (UniProt.org). D324N demonstrates phosphorylation and protection from apoptosis similar to wild-type Flt3 in cell culture (PMID: 16320249), and therefore, is predicted to have no effect on Flt3 protein function.
D358V	missense	unknown	FLT3 D358V lies within the extracellular domain of the Flt3 protein (UniProt.org). D358V has been identified in the scientific literature (PMID: 28466600, PMID: 26118316, PMID: 21984973), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Dec 2023).
D586_D593delinsGG	indel	unknown	FLT3 D586_D593delinsGG results in a deletion of eight amino acids in the juxtamembrane domain of the Flt3 protein from amino acids 586 to 593, combined with the insertion of two glycines (G) at the same site (PMID: 37246158). D586_D593delinsGG results in Flt3 phosphorylation similar to wild-type Flt3 in culture (PMID: 37246158), but has not been fully biochemically characterized and therefore, its effect on Flt3 protein function is unknown.
D586_E596dup	duplication	gain of function - predicted	FLT3 D586_E596dup indicates the insertion of 11 duplicate amino acids, aspartic acid (D)-586 through glutamic acid (E)-596, in the juxtamembrane domain of the Flt3 protein (PMID: 14759363). D586_E596dup has not been biochemically characterized, but can be predicted to lead to activation of Flt3 based on the effects of other Flt3 internal tandem duplication (ITD) mutations (PMID: 12970773, PMID: 9737679, PMID: 11090077).
D593_D600dup	duplication	gain of function - predicted	FLT3 D593_D600dup indicates the insertion of eight duplicate amino acids, aspartic acid (D)-593 through aspartic acid (D)-600, in the juxtamembrane domain of the Flt3 protein (PMID: 14759363). FLT3 D593_D600dup has not been biochemically characterized, but can be predicted to lead to activation of Flt3 based on the effects of other Flt3 internal tandem duplication (ITD) mutations (PMID: 12970773, PMID: 9737679, PMID: 11090077).
D593_F594insSPEDNEYFYVD	insertion	gain of function - predicted	FLT3 D593_F594insSPEDNEYFYVD results in the insertion of 11 amino acids in the juxtamembrane domain of the Flt3 protein between amino acids 593 and 594 (PMID: 14759363). D593_F594insSPEDNEYFYVD has not been biochemically characterized, but can be predicted to lead to activation of Flt3 based on the effects of other Flt3 internal tandem duplication (ITD) mutations (PMID: 12970773, PMID: 9737679, PMID: 11090077).
D698N	missense	unknown	FLT3 D698N lies within the protein kinase domain of the Flt3 protein (UniProt.org). D698N has been demonstrated to occur as a secondary resistance mutation in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 25847190, PMID: 24623852), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2024).	Y
D750Y	missense	unknown	FLT3 D750Y lies within the protein kinase domain of the Flt3 protein (UniProt.org). D750Y has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2024).
D7G	missense	unknown	FLT3 D7G lies within the signal peptide region of the Flt3 protein (UniProt.org). D7G has been identified in the scientific literature (PMID: 27350795, PMID: 28466600), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Dec 2023).
D835A	missense	gain of function	FLT3 D835A lies within the activation loop in the protein kinase domain of the Flt3 protein (PMID: 25837374). D835A results in constitutive phosphorylation of Flt3 and activation of Stat5, Erk signaling, leading to transformation of cultured cells (PMID: 15256420).
D835del	deletion	gain of function	FLT3 D835del results in the deletion of an amino acid from the activation loop in the protein kinase domain of the Flt3 protein at amino acid 835 (PMID: 25837374). D835del results in constitutive phosphorylation of Flt3 and activation of Stat5, Erk signaling, leading to transformation of cultured cells (PMID: 15256420).
D835E	missense	gain of function	FLT3 D835E lies within the activation loop in the protein kinase domain of the Flt3 protein (PMID: 25837374). D835E results in constitutive phosphorylation of Flt3 and activation of Stat5, Erk signaling, leading to transformation of cultured cells (PMID: 15256420).
D835F	missense	unknown	FLT3 D835F lies within the activation loop in the protein kinase domain of the Flt3 protein (PMID: 25837374). D835F has been associated with FLT3 inhibitor resistance (PMID: 24227820, PMID: 23430109), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, May 2024).	Y
D835G	missense	gain of function - predicted	FLT3 D835G lies within the activation loop in the protein kinase domain of the Flt3 protein (PMID: 25837374). D835G results in autophosphorylation of Flt3 in cultured cells (PMID: 28077790), and therefore, is predicted to lead to a gain of Flt3 protein function.
D835H	missense	gain of function	FLT3 D835H lies within the protein kinase domain activation loop of the Flt3 protein (PMID: 11290608). D835H results in constitutive phosphorylation of Flt3 and activation of Stat5, Erk signaling, leading to transformation of cultured cells (PMID: 15256420).
D835I	missense	unknown	FLT3 D835I lies within the protein kinase domain activation loop of the Flt3 protein (PMID: 11290608). D835I has been demonstrated to promote secondary drug resistance in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 27908881), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Dec 2023).	Y
D835K	missense	gain of function - predicted	FLT3 D835K lies within the activation loop in the protein kinase domain of the Flt3 protein (PMID: 25837374). D835K results in IL3-independent growth in culture (PMID: 28077790), and therefore, is predicted to lead to a gain of Flt3 protein function.
D835L	missense	gain of function - predicted	FLT3 D835L lies within the activation loop in the protein kinase domain of the Flt3 protein (PMID: 25837374). D835L results in IL3-independent growth in culture (PMID: 28077790), and therefore, is predicted to lead to a gain of Flt3 protein function.
D835N	missense	gain of function	FLT3 D835N lies within the protein kinase domain activation loop of the Flt3 protein (PMID: 11290608). D835N results in constitutive phosphorylation of Flt3 and activation of Stat5, Erk signaling, leading to transformation of cultured cells (PMID: 15256420).
D835V	missense	gain of function	FLT3 D835V lies within the protein kinase domain activation loop of the Flt3 protein (PMID: 11290608). D835V results in constitutive phosphorylation of Flt3 and activation of Stat5, Erk signaling, leading to transformation of cultured cells (PMID: 15256420), and has been demonstrated to promote secondary drug resistance in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 22504184, PMID: 29187377).	Y
D835X	missense	unknown	FLT3 D835X indicates any Flt3 missense mutation that results in the replacement of the aspartic acid (D) at amino acid 835 by a different amino acid. FLT3 codon 835 mutations are hotspot mutations that often result in constitutive phosphorylation of Flt3 and activation of downstream signaling (PMID: 11290608, PMID: 15256420).
D835Y	missense	gain of function	FLT3 D835Y lies within the protein kinase domain activation loop of the Flt3 protein (UniProt.org, PMID: 11290608). D835Y results in constitutive phosphorylation of Flt3 and activation of Stat5, Erk signaling, leading to transformation of cultured cells (PMID: 15256420, PMID: 30651561), and has been demonstrated to promote secondary drug resistance in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 22504184, PMID: 29187377).	Y
D839A	missense	unknown	FLT3 D839A lies within the activation loop in the protein kinase domain of the Flt3 protein (PMID: 25837374). D839A has been demonstrated to occur as a secondary resistance mutation in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 25847190), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2024).	Y
D839G	missense	gain of function	FLT3 D839G lies within the protein kinase domain activation loop of the Flt3 protein (UniProt.org). D839G results in constitutive phosphorylation of Flt3, activation of Akt and Mapk signaling, leading to transformation of cultured cells (PMID: 24608088), and has been demonstrated to occur as a secondary resistance mutation in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 25847190).	Y
D839H	missense	unknown	FLT3 D839H lies within the protein kinase domain of the Flt3 protein (UniProt.org). D839H has been demonstrated to occur as a secondary resistance mutation in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 25847190), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, May 2024).	Y
D839N	missense	unknown	FLT3 D839N lies within the activation loop of the protein kinase domain of the Flt3 protein (PMID: 25837374). D839N has been demonstrated to occur as a secondary resistance mutation in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 25847190), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, May 2024).	Y
D870E	missense	unknown	FLT3 D870E lies within the protein kinase domain of the Flt3 protein (UniProt.org). D870E has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2024).
D895Y	missense	unknown	FLT3 D895Y lies within the protein kinase domain of the Flt3 protein (UniProt.org). D895Y has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2024).
E140*	nonsense	loss of function - predicted	FLT3 E140* results in a premature truncation of the Flt3 protein at amino acid 140 of 993 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E140* is predicted to lead to a loss of Flt3 protein function.
E236*	nonsense	loss of function - predicted	FLT3 E236* results in a premature truncation of the Flt3 protein at amino acid 236 of 993 (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), E236* is predicted to lead to a loss of Flt3 protein function.
E366*	nonsense	loss of function - predicted	FLT3 E366* results in a premature truncation of the Flt3 protein at amino acid 366 of 993 (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), E366* is predicted to lead to a loss of Flt3 protein function.
E366D	missense	unknown	FLT3 E366D lies within the extracellular domain of the Flt3 protein (UniProt.org). E366D has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2024).
E415K	missense	unknown	FLT3 E415K lies within the extracellular domain of the Flt3 protein (UniProt.org). E415K has been identified in sequencing studies (PMID: 25303977), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2024).
E573del	deletion	gain of function	FLT3 E573del results in the deletion of an amino acid in the juxtamembrane domain of the Flt3 protein at amino acid 573 (PMID: 14759363). E573del confers a gain of function to the Flt3 protein as demonstrated by activation of Stat5, Akt, and Erk1/2 signaling and IL3-independent growth in cultured cells (PMID: 33914060).
E598_F612dup	duplication	gain of function - predicted	FLT3 E598_F612dup indicates the insertion of 15 duplicate amino acids, glutamic acid (E)-598 through phenylalanine (F)-612, in the juxtamembrane domain of the Flt3 protein (PMID: 14759363). E598_F612dup has not been biochemically characterized, but can be predicted to lead to activation of Flt3 based on the effects of other Flt3 internal tandem duplication (ITD) mutations (PMID: 12970773, PMID: 9737679, PMID: 11090077).
E598_Y599del	deletion	gain of function	FLT3 E598_Y599del results in the deletion of two amino acids in the juxtamembrane domain of the Flt3 protein from amino acid 598 to 599 (PMID: 11756186). E598_Y599del confers a gain of function to Flt3 as demonstrated by increased Flt3 downstream signaling, decreased apoptosis, clonogenic growth, and cytokine-independent growth in cultured cells (PMID: 26012842).
E598_Y599insDVDFREYE	insertion	gain of function - predicted	FLT3 E598_Y599insDVDFREYE results in the insertion of eight amino acids in the Flt3 protein between amino acids 598 and 599 (UniProt.org). E598_Y599insDVDFREYE has not been biochemically characterized, but can be predicted to lead to activation of Flt3 based on the effects of other Flt3 internal tandem duplication (ITD) mutations (PMID: 12970773, PMID: 9737679, PMID: 11090077).
E598_Y599insFDFREYE	insertion	gain of function - predicted	FLT3 E598_Y599insFDFREYE results in the insertion of seven amino acids in the Flt3 protein between amino acids 598 and 599 (UniProt.org). E598_Y599insFDFREYE has not been biochemically characterized, but can be predicted to lead to activation of Flt3 based on the effects of other Flt3 internal tandem duplication (ITD) mutations (PMID: 12970773, PMID: 9737679, PMID: 11090077).
E598_Y599insGLVQVTGSSDNEYFYVDFREYE	insertion	gain of function	FLT3 E598_Y599insGLVQVTGSSDNEYFYVDFREYE results in the insertion of 22 amino acids in the cytoplasmic juxtamembrane domain of the Flt3 protein between amino acids E598 and Y599 (PMID: 11756186). E598_Y599insGLVQVTGSSDNEYFYVDFREYE confers a gain of function on Flt3 protein as indicated by transformation of cells in culture and induction of myeloproliferative disorder in mouse models (PMID: 11756186).
E598_Y599insSGSSDNEYFYVDFREYE	insertion	gain of function - predicted	FLT3 E598_Y599insSGSSDNEYFYVDFREYE results in the insertion of 17 amino acids in the juxtamembrane domain of the Flt3 protein between amino acids 598 and 599 (PMID: 14759363). E598_Y599insSGSSDNEYFYVDFREYE has not been biochemically characterized, but can be predicted to lead to activation of Flt3 based on the effects of other Flt3 internal tandem duplication (ITD) mutations (PMID: 12970773, PMID: 9737679, PMID: 11090077).
E598_Y599insVAYVDFREYE	insertion	gain of function - predicted	FLT3 E598_Y599insVAYVDFREYE results in the insertion of ten amino acids in the juxtamembrane domain of the Flt3 protein between amino acids 598 and 599 (PMID: 14759363). E598_Y599insVAYVDFREYE has not been biochemically characterized, but can be predicted to lead to activation of Flt3 based on the effects of other Flt3 internal tandem duplication (ITD) mutations (PMID: 12970773, PMID: 9737679, PMID: 11090077).
E604_F605insSPRGGNEYFYVDFREYEYDLKWE	insertion	gain of function - predicted	FLT3 E604_F605insSPRGGNEYFYVDFREYEYDLKWE results in the insertion of 23 amino acids in the juxtamembrane domain of the Flt3 protein between amino acids 604 and 605 (PMID: 14759363). E604_F605insSPRGGNEYFYVDFREYEYDLKWE has not been biochemically characterized, but can be predicted to lead to activation of Flt3 based on the effects of other Flt3 internal tandem duplication (ITD) mutations (PMID: 12970773, PMID: 9737679, PMID: 11090077).
E608fs	frameshift	loss of function - predicted	FLT3 E608fs results in a change in the amino acid sequence of the Flt3 protein beginning at aa 608 of 993, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), E608fs is predicted to lead to a loss of Flt3 protein function.
E611fs	frameshift	loss of function - predicted	FLT3 E611fs results in a change in the amino acid sequence of the Flt3 protein beginning at aa 611 of 993, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), E611fs is predicted to lead to a loss of Flt3 protein function.
E654D	missense	unknown	FLT3 E654D lies within the protein kinase domain of the Flt3 protein (UniProt.org). E654D has been identified in the scientific literature (PMID: 32247263), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Dec 2023).
E708G	missense	unknown	FLT3 E708G lies within the protein kinase domain of the Flt3 protein (UniProt.org). E708G has been identified in sequencing studies (PMID: 25847190), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2024).
E778K	missense	unknown	FLT3 E778K lies within the protein kinase domain of the Flt3 protein (UniProt.org). E778K has been identified in the scientific literature (PMID: 32040554), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Sep 2024).
E77K	missense	unknown	FLT3 E77K lies within the extracellular domain of the Flt3 protein (UniProt.org). E77K has been identified in sequencing studies (PMID: 27062340), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2024).
E786K	missense	unknown	FLT3 E786K lies within the protein kinase domain of the Flt3 protein (UniProt.org). E786K has been identified in the scientific literature (PMID: 32040554), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Sep 2024).
E858Kfs*29	frameshift	unknown	FLT3 E858Kfs29 indicates a shift in the reading frame starting at amino acid 858 and terminating 29 residues downstream causing a premature truncation of the 993 amino acid Flt3 protein (UniProt.org). E858Kfs29 has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2024).
E880K	missense	unknown	FLT3 E880K lies within the protein kinase domain of the Flt3 protein (UniProt.org). E880K has been identified in sequencing studies (PMID: 26343386), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2024).
E964A	missense	unknown	FLT3 E964A lies within the cytoplasmic domain of the Flt3 protein (UniProt.org). E964A has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2024).
exon 14 ins	indel	gain of function - predicted	FLT3 exon 14 ins refers to a series of internal tandem duplications (ITD) typically occurring in exon 14 and within the juxtamembrane domain of the Flt3 protein (PMID: 12970773). Exon 14 ins mutations often result in constitutive activation of Flt3 (PMID: 12970773) and therefore, is predicted to lead to a gain of Flt3 protein function.
exon 15 ins	indel	gain of function - predicted	FLT3 exon 15 ins refers to a series of internal tandem duplications (ITD) typically occurring in exon 14 and sometimes a portion of exon 15, and within the juxtamembrane domain of the Flt3 protein (PMID: 12970773). Exon 15 ins mutations often result in constitutive activation of Flt3 (PMID: 12970773) and therefore, is predicted to lead to a gain of Flt3 protein function.
exon14	unknown	unknown	FLT3 exon 14 indicates an unspecified mutation has occurred in exon 14 of the FLT3 gene.
exon15	unknown	unknown	FLT3 exon 15, which corresponds to the tyrosine kinase domain, indicates an unspecified mutation has occurred in exon 15 of the FLT3 gene.
exon16	unknown	unknown	FLT3 exon 16, which corresponds to the tyrosine kinase domain, indicates an unspecified mutation has occurred in exon 16 of the FLT3 gene.
exon17	unknown	unknown	FLT3 exon 17, which corresponds to the tyrosine kinase domain, indicates an unspecified mutation has occurred in exon 17 of the FLT3 gene.
exon18	unknown	unknown	FLT3 exon 18, which corresponds to the tyrosine kinase domain, indicates an unspecified mutation has occurred in exon 18 of the FLT3 gene.
exon19	unknown	unknown	FLT3 exon 19, which corresponds to the tyrosine kinase domain, indicates an unspecified mutation has occurred in exon 19 of the FLT3 gene.
exon20	unknown	unknown	FLT3 exon 20, which corresponds to the tyrosine kinase domain, indicates an unspecified mutation has occurred in exon 20 of the FLT3 gene.
exon21	unknown	unknown	FLT3 exon 21, which corresponds to the tyrosine kinase domain, indicates an unspecified mutation has occurred in exon 21 of the FLT3 gene.
exon22	unknown	unknown	FLT3 exon 22, which corresponds to the tyrosine kinase domain, indicates an unspecified mutation has occurred in exon 22 of the FLT3 gene.
exon23	unknown	unknown	FLT3 exon 23, which corresponds to the tyrosine kinase domain, indicates an unspecified mutation has occurred in exon 23 of the FLT3 gene.
F406C	missense	unknown	FLT3 F406C lies within the extracellular domain of the Flt3 protein (UniProt.org). F406C has not been characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2024).
F590G	missense	unknown	FLT3 F590G lies within the cytoplasmic domain of the Flt3 protein (UniProt.org). F590G has been identified in sequencing studies (PMID: 14984498) but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2024).
F590_D593delinsGP	indel	unknown	FLT3 F590_D593delinsGP results in a deletion of four amino acids in the juxtamembrane domain of the Flt3 protein from amino acids 590 to 593, combined with the insertion of a glycine (G) and a proline (P) at the same site (PMID: 37246158). F590_D593delinsGP results in Flt3 phosphorylation similar to wild-type Flt3 in culture (PMID: 37246158), but has not been fully biochemically characterized and therefore, its effect on Flt3 protein function is unknown.
F590_D593delinsLY	indel	gain of function	FLT3 F590_D593delinsLY results in a deletion of four amino acids in the juxtamembrane domain of the Flt3 protein from amino acids 590 to 593, combined with the insertion of a leucine (L) and a tyrosine (Y) at the same site (PMID: 11756186). F590_D593delinsLY confers a gain of function to Flt3 as demonstrated by increased Flt3 downstream signaling, decreased apoptosis, weak clonogenic growth, and cytokine-independent growth in cultured cells (PMID: 26012842).
F590_F605dup	duplication	gain of function	FLT3 F590_F605dup indicates the insertion of 16 duplicate amino acids, phenylalanine (F)-590 through phenylalanine (F)-605, in the juxtamembrane domain of the Flt3 protein (PMID: 11756186). F590_F605dup results in constitutive phosphorylation of Flt3, activation of Stat5 and Erk signaling, and transformation of cells in culture (PMID: 10698507).
F590_R595delinsL	indel	gain of function - predicted	FLT3 F590_R595delinsL results in a deletion of six amino acids in the juxtamembrane domain of the Flt3 protein from amino acids 590 to 595, combined with the insertion of a leucine (L) at the same site (UniProt.org). F590_R595delinsL results in increased Flt3 phosphorylation and downstream signaling in patient cells (PMID: 34660293), and can be predicted to lead to a gain of Flt3 protein function based on the effects of other Flt3 internal tandem duplication (ITD) mutations (PMID: 12970773, PMID: 9737679, PMID: 11090077).
F590_Y591delinsGD	indel	gain of function	FLT3 F590_Y591delinsGD results in a deletion of 2 amino acids in the juxtamembrane domain of the Flt3 protein from amino acids 590 to 591, combined with the insertion of a glycine (G) and an aspartic acid (D) at the same site (PMID: 11756186). F590_Y591delinsGD results in constitutive phosphorylation of Flt3, activation of Stat5 signaling, and transformation of cells in culture (PMID: 16410449).
F594C	missense	gain of function - predicted	FLT3 F594C lies within the juxtamembrane domain of the Flt3 protein (PMID: 29164965). F594C results in increased phosphorylation of Flt3 and Stat5 in culture (EHA, June 2017, abstr P184), and therefore, is predicted to lead to a gain of Flt3 protein function.
F594L	missense	gain of function	FLT3 F594L lies within the juxtamembrane domain of the Flt3 protein (PMID: 29164965). F594L results in constitutive phosphorylation of Flt3, activation of Stat5 signaling, and is transforming in culture (PMID: 16410449).
F594Y	missense	gain of function - predicted	FLT3 F594Y lies within the juxtamembrane domain of the Flt3 protein (PMID: 29164965). F594Y results in increased phosphorylation of Flt3 and Stat5 in culture (EHA, June 2017, abstr P184) and therefore, is predicted to lead to a gain of Flt3 protein function.
F594_D600dup	duplication	gain of function - predicted	FLT3 F594_D600dup indicates the insertion of seven duplicate amino acids, phenylalanine (F)-594 through aspartic acid (D)-600, in the juxtamembrane domain of the Flt3 protein (PMID: 14759363). F594_D600dup has not been biochemically characterized, but can be predicted to lead to activation of Flt3 based on the effects of other Flt3 internal tandem duplication (ITD) mutations (PMID: 12970773, PMID: 9737679, PMID: 11090077).
F594_R595insGTGSSDNEYFYVDF	insertion	gain of function - predicted	FLT3 F594_R595insGTGSSDNEYFYVDF results in the insertion of 14 amino acids in the juxtamembrane domain of the Flt3 protein between amino acids 594 and 595 (PMID: 14759363). F594_R595insGTGSSDNEYFYVDF has not been biochemically characterized, but can be predicted to lead to activation of Flt3 based on the effects of other Flt3 internal tandem duplication (ITD) mutations (PMID: 12970773, PMID: 9737679, PMID: 11090077).
F594_W603dup	duplication	gain of function - predicted	FLT3 F594_W603dup indicates the insertion of eight duplicate amino acids, aspartic acid (D)-593 through tryptophan (W)-603, in the juxtamembrane domain of the Flt3 protein (PMID: 14759363). FLT3 F594_W603dup has not been biochemically characterized, but can be predicted to lead to activation of Flt3 based on the effects of other Flt3 internal tandem duplication (ITD) mutations (PMID: 12970773, PMID: 9737679, PMID: 11090077).
F612fs	frameshift	loss of function - predicted	FLT3 F612fs results in a change in the amino acid sequence of the Flt3 protein beginning at aa 612 of 993, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), F612fs is predicted to lead to a loss of Flt3 protein function.
F612_G613insQGFYVDFREYEYDLKWEFPRENLEF	insertion	gain of function - predicted	FLT3 F612_G613insQGFYVDFREYEYDLKWEFPRENLEF results in the insertion of 25 amino acids in the juxtamembrane domain of the Flt3 protein between amino acids 612 and 613 (PMID: 14759363). F612_G613insQGFYVDFREYEYDLKWEFPRENLEF has not been biochemically characterized, but can be predicted to lead to activation of Flt3 based on the effects of other Flt3 internal tandem duplication (ITD) mutations (PMID: 12970773, PMID: 9737679, PMID: 11090077).
F621L	missense	unknown	FLT3 F621L lies within the protein kinase domain of the Flt3 protein (UniProt.org). F621L has been identified in the scientific literature (PMID: 22858906), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2024).	Y
F691I	missense	unknown	FLT3 F691I lies within the protein kinase domain of the Flt3 protein (PMID: 23430109). F691I has been demonstrated to promote secondary drug resistance in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 23392356, PMID: 22409268), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2024).	Y
F691L	missense	no effect - predicted	FLT3 F691L lies within the protein kinase domain of the Flt3 protein (PMID: 23430109). F691L has been demonstrated to promote secondary drug resistance in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 23430109, PMID: 19318574, PMID: 22504184, PMID: 29187377), but is not transforming in cell culture (PMID: 30651561), and therefore, is predicted to have no effect on Flt3 protein function.	Y
F804C	missense	unknown	FLT3 F804C lies within the protein kinase domain of the Flt3 protein (UniProt.org). F804C has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2024).
fusion	fusion	unknown	FLT3 fusion indicates a fusion of the FLT3 gene, but the fusion partner is unknown.
G282R	missense	unknown	FLT3 G282R lies within the Ig-like C2-type domain of the Flt3 protein (UniProt.org). G282R has been identified in sequencing studies (PMID: 24728327), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Dec 2023).
G613_K614insYVDFREYEYDLKWEFRPRENLEFG	insertion	gain of function - predicted	FLT3 G613_K614insYVDFREYEYDLKWEFRPRENLEFG (F612_G613insGYVDFREYEYDLKWEFRPRENLEF) results in the insertion of 24 amino acids in the protein kinase domain of the Flt3 protein between amino acids 613 and 614 (UniProt.org). G613_K614insYVDFREYEYDLKWEFRPRENLEFG results in transformation of cultured cells (PMID: 11756186), and therefore, is predicted to lead to a gain of Flt3 protein function.
G617E	missense	unknown	FLT3 G617E lies within the protein kinase domain of the Flt3 protein (UniProt.org). G617E has been identified in sequencing studies (PMID: 27320919), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2024).
G619V	missense	unknown	FLT3 G619V lies within the protein kinase domain of the Flt3 protein (UniProt.org). G619V has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2024).
G631R	missense	unknown	FLT3 G631R lies within the protein kinase domain of the Flt3 protein (UniProt.org). G631R has been identified in the scientific literature (PMID: 32040554), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Sep 2024).
G669R	missense	unknown	FLT3 G669R lies within the protein kinase domain of the Flt3 protein (UniProt.org). G669R has been identified in the scientific literature (PMID: 32040554), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Sep 2024).
G697C	missense	unknown	FLT3 G697C lies within the protein kinase domain of the Flt3 protein (UniProt.org). G697C has not been characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Jan 2024).
G697R	missense	unknown	FLT3 G697R lies within the protein kinase domain of the Flt3 protein (UniProt.org). G697R has been demonstrated to occur as a secondary resistance mutation in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 15374944, PMID: 22875611, PMID: 17827387), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2024).	Y
G697S	missense	unknown	FLT3 G697S lies within the protein kinase domain of the Flt3 protein (UniProt.org). G697S has been demonstrated to promote secondary drug resistance in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 35395091), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Dec 2023).	Y
G757E	missense	unknown	FLT3 G757E lies within the protein kinase domain of the Flt3 protein (UniProt.org). G757E has been identified in the scientific literature (PMID: 32040554), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Sep 2024).
G822E	missense	unknown	FLT3 G822E lies within the protein kinase domain of the Flt3 protein (UniProt.org). G822E has been identified in the scientific literature (PMID: 32040554), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Sep 2024).
G822R	missense	unknown	FLT3 G822R lies within the protein kinase domain of the Flt3 protein (UniProt.org). G822R has been identified in sequencing studies (PMID: 26010451), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2024).
G831E	missense	unknown	FLT3 G831E lies within the protein kinase domain of the Flt3 protein (UniProt.org). G831E demonstrates autophosphorylation and activation of downstream signaling at similar levels to wild-type Flt3 in culture, but is also predicted to stabilize the autoinhibitory conformation of the Flt3 protein and lead to a loss of function based on structural modeling (PMID: 18068628), and therefore, its effect on Flt3 protein function is unknown.
G846C	missense	unknown	FLT3 G846C lies within the protein kinase domain of the Flt3 protein (UniProt.org). G846C has been demonstrated to promote secondary drug resistance in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 35344039), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Mar 2024).	Y
G846D	missense	gain of function	FLT3 G846D lies within the protein kinase domain of the Flt3 protein (UniProt.org). G846D confers a gain of function to Flt3 as demonstrated by IL3-independent growth and increased Stat5 phosphorylation in cultured cells (PMID: 38049555).
G846R	missense	unknown	FLT3 G846R lies within the activation loop of the protein kinase domain of the Flt3 protein (PMID: 25837374). G846R has been demonstrated to occur as a secondary resistance mutation in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 25847190), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2024).	Y
G846S	missense	unknown	FLT3 G846S lies within the protein kinase domain of the Flt3 protein (UniProt.org). G846S results in increased phosphorylation of Flt3 in patient peripheral blood samples (PMID: 14654525), but has not been fully biochemically characterized and therefore, its effect on Flt3 protein function is unknown.
G905V	missense	unknown	FLT3 G905V lies within the protein kinase domain of the Flt3 protein (UniProt.org). G905V has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2024).
H721Y	missense	unknown	FLT3 H721Y lies within the protein kinase domain of the Flt3 protein (UniProt.org). H721Y has been identified in the scientific literature (PMID: 32040554), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Sep 2024).
H821fs	frameshift	unknown	FLT3 H821fs results in a change in the amino acid sequence of the Flt3 protein beginning at aa 821 of 993, likely resulting in premature truncation of the functional protein (UniProt.org). H821fs has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2024).
I38V	missense	unknown	FLT3 I38V lies within the extracellular domain of the Flt3 protein (UniProt.org). I38V has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2024).
I417L	missense	unknown	FLT3 I417L lies within the extracellular domain of the Flt3 protein (UniProt.org). I417L has been identified in sequencing studies (PMID: 24728327), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Dec 2023).
I836D	missense	gain of function	FLT3 I836D lies within the protein kinase domain of the Flt3 protein (UniProt.org). I836D results in IL3-independent growth in culture (PMID: 28077790), and therefore, is predicted to lead to a gain of Flt3 protein function.
I836del	deletion	gain of function	FLT3 I836del results in the deletion of an amino acid in the protein kinase domain activation loop of the Flt3 protein at amino acid 836 (PMID: 12663439). I836del results in constitutive phosphorylation of Flt3 and activation of Stat5, Erk signaling, leading to transformation of cultured cells (PMID: 15256420).
I836F	missense	unknown	FLT3 I836F lies within the protein kinase domain of the Flt3 protein (UniProt.org). I836F has been identified in sequencing studies (PMID: 16371029, PMID: 16857985), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2024).
I836H	missense	unknown	FLT3 I836H lies within the protein kinase domain of the Flt3 protein (UniProt.org). I836H has been identified in sequencing studies (PMID: 16912228), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2024).
I836L	missense	gain of function - predicted	FLT3 I836L lies within the protein kinase domain of the Flt3 protein (UniProt.org). I836L results in IL3-independent growth in culture (PMID: 28077790), and therefore, is predicted to lead to a gain of Flt3 protein function.
I836M	missense	unknown	FLT3 I836M lies within the protein kinase domain of the Flt3 protein (UniProt.org). I836M has been identified in the scientific literature (PMID: 15390271, PMID: 15674414, PMID: 38542393), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, May 2024).
I836S	missense	gain of function - predicted	FLT3 I836S lies within the protein kinase domain of the Flt3 protein (UniProt.org). I836S results in IL3-independent growth in culture (PMID: 28077790), and therefore, is predicted to lead to a gain of Flt3 protein function.
I836T	missense	gain of function - predicted	FLT3 I836T lies within the protein kinase domain of the Flt3 protein (UniProt.org). I836T results in IL3-independent growth in culture (PMID: 28077790), and therefore, is predicted to lead to a gain of Flt3 protein function.
I836V	missense	unknown	FLT3 I836V lies within the protein kinase domain of the Flt3 protein (UniProt.org). I836V has been identified in the scientific literature (PMID: 16213360, PMID: 38542393), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, May 2024).
I836X	missense	unknown	FLT3 I836X indicates any Flt3 missense mutation that results in the replacement of the isoleucine (I) at amino acid 836 by a different amino acid.
I836_M837del	deletion	unknown	FLT3 I836_M837del results in the deletion of two amino acids in the protein kinase domain of the Flt3 protein from amino acids 836 to 837 (UniProt.org). I836_M837del has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, May 2024).
I836_M837insIRC	insertion	unknown	FLT3 I836_M837insIRC results in the insertion of three amino acids in the protein kinase domain of the Flt3 protein between amino acids 836 and 837 (UniProt.org). I836_M837insIRC has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Dec 2023).
I867S	missense	gain of function	FLT3 I867S lies within the protein kinase domain of the Flt3 protein (UniProt.org). I867S results in constitutive phosphorylation of Flt3 and activation of Akt signaling, leading to transformation of cultured cells (PMID: 24608088)
inact mut	unknown	loss of function	FLT3 inact mut indicates that this variant results in a loss of function of the Flt3 protein. However, the specific amino acid change has not been identified.
K290T	missense	unknown	FLT3 K290T lies within the Ig-like C2-type domain of the Flt3 protein (UniProt.org). K290T has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2024).
K429E	missense	gain of function - predicted	FLT3 K429E lies within the extracellular domain of the Flt3 protein (UniProt.org). K429E is predicted to confer a gain of function to the Flt3 protein, as demonstrated by transformation of cells in culture (PMID: 30651561).	Y
K438fs	frameshift	loss of function - predicted	FLT3 K438fs results in a change in the amino acid sequence of the Flt3 protein beginning at aa 438 of 993, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), K438fs is predicted to lead to a loss of Flt3 protein function.
K614_G617del	deletion	gain of function - predicted	FLT3 K614_G617del results in the deletion of four amino acids in the protein kinase domain of the Flt3 protein from amino acids 614 to 617 (UniProt.org). K614_G617del results in increased Flt3 phosphorylation in culture (PMID: 37246158), and therefore, is predicted to lead to a gain of Flt3 protein function.
K663Q	missense	gain of function - predicted	FLT3 K663Q lies within the protein kinase domain of the Flt3 protein (UniProt.org). K663Q results in constitutive phosphorylation of Flt3 and activation of Akt, Mapk, and Stat pathways in cell culture (PMID: 16990784), and therefore, is predicted to lead to a gain of Flt3 protein function.
K826fs	frameshift	unknown	FLT3 K826fs results in a change in the amino acid sequence of the Flt3 protein beginning at aa 826 of 993, likely resulting in premature truncation of the functional protein (UniProt.org). K826fs has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2024).
K868N	missense	loss of function	FLT3 K868N lies within the protein kinase domain of the Flt3 protein (UniProt.org). K868N inhibits Flt3 autophosphorylation and decreases Erk activity in cell culture (PMID: 27272783).
L37S	missense	unknown	FLT3 L37S lies within the extracellular domain of the Flt3 protein (UniProt.org). L37S has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2024).
L576R	missense	gain of function	FLT3 L576R lies within the cytoplasmic domain of the Flt3 protein (UniProt.org). L576R results in increased phosphorylation of Flt3 and Stat5 in culture (EHA, June 2017, abstr P184).
L601F	missense	no effect - predicted	FLT3 L601F lies within the cytoplasmic domain of the Flt3 protein (UniProt.org). L601F is not transforming in cell culture (PMID: 30651561), and therefore, is predicted to have no effect on Flt3 protein function.
L601_K602insNVDFREYEYDL	insertion	gain of function - predicted	FLT3 L601_K602insNVDFREYEYDL results in the insertion of 11 amino acids in the juxtamembrane domain of the Flt3 protein between amino acids 601 and 602 (PMID: 14759363). L601_K602insNVDFREYEYDL has not been biochemically characterized, but can be predicted to lead to activation of Flt3 based on the effects of other Flt3 internal tandem duplication (ITD) mutations (PMID: 12970773, PMID: 9737679, PMID: 11090077).
L610fs	frameshift	loss of function - predicted	FLT3 L610fs results in a change in the amino acid sequence of the Flt3 protein beginning at aa 610 of 993, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), L610fs is predicted to lead to a loss of Flt3 protein function.
L610_E611insCSSDNEYFYVDFREYEYDLKWEFPRENL	insertion	gain of function	FLT3 L610_E611insCSSDNEYFYVDFREYEYDLKWEFPRENL results in the insertion of 28 amino acids in the juxtamembrane domain of the Flt3 protein between amino acids L610 and E611 (UniProt.org, PMID: 11756186). L610_E611insCSSDNEYFYVDFREYEYDLKWEFPRENL results in constitutive phosphorylation of Flt3, activation of Stat5 and Mapk signaling, and transformation of cultured cells (PMID: 10698507, PMID: 11756186).
L678M	missense	unknown	FLT3 L678M lies within the protein kinase domain of the Flt3 protein (UniProt.org). L678M has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2024).
L699F	missense	unknown	FLT3 L699F lies within the protein kinase domain of the Flt3 protein (UniProt.org). L699F has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2024).
L832F	missense	unknown	FLT3 L832F lies within the protein kinase domain of the Flt3 protein (UniProt.org). L832F has been identified in sequencing studies (PMID: 24221193), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2024).
L850fs	frameshift	unknown	FLT3 L850fs results in a change in the amino acid sequence of the Flt3 protein beginning at aa 850 of 993, likely resulting in premature truncation of the functional protein (UniProt.org). L850fs has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2024).
LOH	deletion	unknown	FLT3 LOH indicates the loss of one parental copy of the FLT3 gene, resulting in loss of heterozygosity.
M578_E598dup	duplication	gain of function - predicted	FLT3 M578_E598dup indicates the insertion of 21 duplicate amino acids, methionine (M)-578 through glutamic acid (E)-598, in the juxtamembrane domain of the Flt3 protein (PMID: 14759363). M578_E598dup has not been biochemically characterized, but can be predicted to lead to activation of Flt3 based on the effects of other Flt3 internal tandem duplication (ITD) mutations (PMID: 12970773, PMID: 9737679, PMID: 11090077).
M664I	missense	unknown	FLT3 M664I lies within the protein kinase domain of the Flt3 protein (UniProt.org). M664I has been demonstrated to occur as a secondary resistance mutation in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 25847190), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, May 2024).	Y
M665T	missense	gain of function - predicted	FLT3 M665T lies within the protein kinase domain of the Flt3 protein (UniProt.org). M665T results in similar JAK/STAT signaling, but increased NF-kappaB signaling compared to wild-type Flt3 in a reporter assay (PMID: 29464843), and therefore, is predicted to lead to a gain of Flt3 protein function.
M737I	missense	no effect - predicted	FLT3 M737I lies within the protein kinase domain of the Flt3 protein (UniProt.org). M737I does not result in Il-3 independent growth of cultured cells (PMID: 18068628), and therefore, is predicted to have no effect on Flt3 protein function.
M837G	missense	unknown	FLT3 M837G lies within the protein kinase domain of the Flt3 protein (UniProt.org). M837G has not been characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, May 2024).
M837I	missense	unknown	FLT3 M837I lies within the protein kinase domain of the Flt3 protein (UniProt.org). M837I has been identified in the scientific literature (PMID: 32040554), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Sep 2024).
M837K	missense	unknown	FLT3 M837K lies within the protein kinase domain of the Flt3 protein (UniProt.org). M837K has been identified in the scientific literature (PMID: 32040554, PMID: 31088841), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Jan 2024).
M837P	missense	unknown	FLT3 M837P lies within the protein kinase domain of the Flt3 protein (UniProt.org). M837P has been identified in sequencing studies (PMID: 16371029, PMID: 16857985), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Dec 2023).
M837_D839delinsGRH	indel	unknown	FLT3 M837_D839delinsGRH results in a deletion of three amino acids in the protein kinase domain of the Flt3 protein from amino acids 837 to 839, combined with the insertion of three amino acids at the same site (UniProt.org). M837_D839delinsGRH has been associated with drug resistance when co-occurring with FLT3 internal tandem duplication (FLT3-ITD) (PMID: 25847190), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, May 2024).
M855T	missense	unknown	FLT3 M855T lies within the protein kinase domain of the Flt3 protein (UniProt.org). M855T has been identified in the scientific literature (PMID: 32040554, PMID: 19318574), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Jan 2024).
mutant	unknown	unknown	FLT3 mutant indicates an unspecified mutation in the FLT3 gene.
N587fs	frameshift	loss of function - predicted	FLT3 N587fs results in a change in the amino acid sequence of the Flt3 protein beginning at aa 587 of 993, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), N587fs is predicted to lead to a loss of Flt3 protein function.
N587_D600dup	duplication	gain of function - predicted	FLT3 N587_D600dup indicates the insertion of 14 duplicate amino acids, asparagine (N)-587 through aspartic acid (D)-600, in the juxtamembrane domain of the Flt3 protein (PMID: 14759363). N587_D600dup has not been biochemically characterized, but can be predicted to lead to activation of Flt3 based on the effects of other Flt3 internal tandem duplication (ITD) mutations (PMID: 12970773, PMID: 9737679, PMID: 11090077).
N609fs	frameshift	loss of function - predicted	FLT3 N609fs results in a change in the amino acid sequence of the Flt3 protein beginning at aa 609 of 993, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), N609fs is predicted to lead to a loss of Flt3 protein function.
N609K	missense	unknown	FLT3 N609K lies within the cytoplasmic domain of the Flt3 protein (UniProt.org). N609K has been identified in sequencing studies (PMID: 25847190), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2024).
N609T	missense	unknown	FLT3 N609T lies within the protein kinase domain of the Flt3 protein (UniProt.org). N609T has been identified in the scientific literature (PMID: 32040554, PMID: 36010254), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Sep 2024).
N676D	missense	unknown	FLT3 N676D lies within the protein kinase domain of the Flt3 protein (UniProt.org). N676D has been demonstrated to occur as a secondary resistance mutation in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 22875611, PMID: 15374944), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, May 2024).	Y
N676K	missense	gain of function	FLT3 N676K lies within the protein kinase domain of the Flt3 protein (UniProt.org). N676K results in constitutive phosphorylation of Flt3, activation of Akt and Mapk signaling, leading to malignant hematological transformation in animal models (PMID: 26891877), and has been demonstrated to occur as a resistance mutation in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 16150941).	Y
N676S	missense	unknown	FLT3 N676S lies within the protein kinase domain of the Flt3 protein (UniProt.org). N676S has been demonstrated to occur as a secondary resistance mutation in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 25847190, PMID: 15374944, PMID: 31790499), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, May 2024).	Y
N676T	missense	unknown	FLT3 N676T lies within the protein kinase domain of the Flt3 protein (UniProt.org). N676T has been associated with resistance to some FLT3 inhibitors (Blood (2019) 134 (Supplement_1): 2672), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Dec 2023).	Y
N701K	missense	gain of function - predicted	FLT3 N701K lies within the protein kinase domain of the Flt3 protein (UniProt.org). N701K results in transformation activity and has been associated with resistance to some FLT3 inhibitors in the context of FLT3-ITD in cultured cells (PMID: 33780043), and therefore, is predicted to lead to a gain of Flt3 protein function.	Y
N841H	missense	unknown	FLT3 N841H lies within the protein kinase domain of the Flt3 protein (UniProt.org). N841H has been identified in the scientific literature (PMID: 32040554, PMID: 24623852, PMID: 16990784), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Sep 2024).
N841I	missense	gain of function	FLT3 N841I lies within the protein kinase domain of the Flt3 protein (UniProt.org). N841I results in constitutive phosphorylation of Flt3, activation of Akt and Mapk signalling pathways, leading to leukemogenicity in animal models (PMID: 15178581).
N841K	missense	unknown	FLT3 N841K lies within the activation loop of the protein kinase domain of the Flt3 protein (PMID: 25837374). N841K has been demonstrated to occur as a secondary resistance mutation in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 25847190, PMID: 25487917), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, May 2024).	Y
N841T	missense	unknown	FLT3 N841T lies within the activation loop of the protein kinase domain of the Flt3 protein (PMID: 25837374). N841T has been identified in the scientific literature (PMID: 32040554, PMID: 32855275), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Sep 2024).
N841Y	missense	unknown	FLT3 N841Y lies within the activation loop of the protein kinase domain of the Flt3 protein (PMID: 25837374). N841Y has been identified in the scientific literature (PMID: 32040554, PMID: 15178581), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, May 2024).
N847fs	frameshift	unknown	FLT3 N847fs results in a change in the amino acid sequence of the Flt3 protein beginning at aa 847 of 993, likely resulting in premature truncation of the functional protein (UniProt.org). N847fs has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Jul 2024).
over exp	none	no effect	FLT3 over exp indicates an over expression of the Flt3 protein and/or mRNA. However, the mechanism causing the over expression is unspecified.
P532S	missense	unknown	FLT3 P532S lies within the extracellular domain of the Flt3 protein (UniProt.org). P532S has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2024).
P54L	missense	unknown	FLT3 P54L lies within the extracellular domain of the Flt3 protein (UniProt.org). P54L has been identified in sequencing studies (PMID: 27320919), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Dec 2023).
P606L	missense	unknown	FLT3 P606L lies within the cytoplasmic domain of the Flt3 protein (UniProt.org). P606L has not been characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Dec 2023).
P733Q	missense	unknown	FLT3 P733Q lies within the protein kinase domain of the Flt3 protein (UniProt.org). P733Q has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2024).
P738R	missense	unknown	FLT3 P738R lies within the protein kinase domain of the Flt3 protein (UniProt.org). P738R has been identified in sequencing studies (PMID: 33750258), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2024).
P888S	missense	unknown	FLT3 P888S lies within the protein kinase domain of the Flt3 protein (UniProt.org). P888S has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2024).
P893L	missense	unknown	FLT3 P893L lies within the protein kinase domain of the Flt3 protein (UniProt.org). P893L has been identified in the scientific literature (PMID: 36341335), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, May 2024).
P986L	missense	unknown	FLT3 P986L lies within the cytoplasmic domain of the Flt3 protein (UniProt.org). P986L has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Dec 2023).
positive	unknown	unknown	FLT3 positive indicates the presence of the FLT3 gene, mRNA, and/or protein.
Q575del	deletion	gain of function	FLT3 Q575del results in the deletion of an amino acid in the juxtamembrane domain of the Flt3 protein at amino acid 575 (PMID: 14759363). Q575del confers a gain of function to the Flt3 protein as demonstrated by activation of Stat5, Akt, and Erk1/2 signaling and IL3-independent growth in cultured cells (PMID: 33914060).
Q577_Y589delinsPSD	indel	unknown	FLT3 Q577_Y589delinsPSD results in a deletion of 13 amino acids in the juxtamembrane domain of the Flt3 protein from amino acids 577 to 589, combined with the insertion of three amino acids at the same site (PMID: 37246158). Q577_Y589delinsPSD results in Flt3 phosphorylation similar to wild-type Flt3 in culture (PMID: 37246158), but has not been fully biochemically characterized and therefore, its effect on Flt3 protein function is unknown.
R174K	missense	unknown	FLT3 R174K lies within the extracellular domain of the Flt3 protein (UniProt.org). R174K has been identified in sequencing studies (PMID: 22622578), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2024).
R387Q	missense	unknown	FLT3 R387Q lies within the extracellular domain of the Flt3 protein (UniProt.org). R387Q has been identified in the scientific literature (PMID: 32411094), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Dec 2023).
R595_E596insDYVDFR	insertion	gain of function - predicted	FLT3 R595_E596insDYVDFR results in the insertion of six amino acids in the juxtamembrane domian of the Flt3 protein between amino acids 595 and 596 (PMID: 14759363). R595_E596insDYVDFR has not been biochemically characterized, but can be predicted to lead to activation of Flt3 based on the effects of other Flt3 internal tandem duplication (ITD) mutations (PMID: 12970773, PMID: 9737679, PMID: 11090077).
R595_L601dup	duplication	gain of function	FLT3 R595_L601dup (also referred to as FLT3 L601_K602insREYEYDL) indicates the insertion of seven duplicate amino acids, arginine (R)-595 through leucine(L)-601, in the juxtamembrane domain of the Flt3 protein (PMID: 11756186). R595_L601dup results in constitutive phosphorylation of Flt3, activation of Stat5 and Erk signaling, transformation of cells in culture, and induction of myeloproliferative disorder in mouse models (PMID: 18068628, PMID: 11756186).
R607fs	frameshift	loss of function - predicted	FLT3 R607fs results in a change in the amino acid sequence of the Flt3 protein beginning at aa 607 of 993, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), R607fs is predicted to lead to a loss of Flt3 protein function.
R834Q	missense	gain of function	FLT3 R834Q lies within the protein kinase domain of the Flt3 protein (UniProt.org). R834Q results in constitutive phosphorylation of Flt3, activation of Erk signaling, and is transforming in culture (PMID: 18068628).
R834_D835del	deletion	unknown	FLT3 R834_D835del results in the deletion of two amino acids in the protein kinase domain of the Flt3 protein from amino acids 834 to 835 (UniProt.org). R834_D835del has been identified in sequencing studies (PMID: 31471587, PMID: 33149267), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Nov 2024).
R845G	missense	unknown	FLT3 R845G lies within the activation loop of the protein kinase domain of the Flt3 protein (PMID: 25837374). R845G has been demonstrated to occur as a secondary resistance mutation in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 25847190, PMID: 30962949), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, May 2024).	Y
R845S	missense	unknown	FLT3 R845S lies within the activation loop of the protein kinase domain of the Flt3 protein (PMID: 25837374). R845S has been identified in the scientific literature (PMID: 32040554), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Sep 2024).
R849fs	frameshift	unknown	FLT3 R849fs results in a change in the amino acid sequence of the Flt3 protein beginning at aa 849 of 993, likely resulting in premature truncation of the functional protein (UniProt.org). R849fs has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2024).
R933L	missense	unknown	FLT3 R933L lies within the protein kinase domain of the Flt3 protein (UniProt.org). R933L has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Dec 2023).
rearrange	unknown	unknown	FLT3 rearrangement indicates an unspecified rearrangement of the FLT3 gene.
S127F	missense	unknown	FLT3 S127F lies within the extracellular domain of the Flt3 protein (UniProt.org). S127F has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, May 2024).
S451E	missense	unknown	FLT3 S451E lies within the extracellular domain of the Flt3 protein (UniProt.org). S451E has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Dec 2023).
S451F	missense	gain of function	FLT3 S451F lies within the extracellular domain of the Flt3 protein (UniProt.org). S541F results in constitutive phosphorylation of Flt3, activation of Erk signaling, and is transforming in culture (PMID: 18068628).
S454L	missense	unknown	FLT3 S454L lies within the extracellular domain of the Flt3 protein (UniProt.org). S454L has been identified in sequencing studies (PMID: 25056374, PMID: 30115035, PMID: 33854152), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2024).
S574del	deletion	gain of function	FLT3 S574del results in the deletion of an amino acid in the juxtamembrane domain of the Flt3 protein at amino acid 573 (PMID: 14759363). S574del confers a gain of function to the Flt3 protein as demonstrated by activation of Stat5, Akt, and Erk1/2 signaling and IL3-independent growth in cultured cells (PMID: 33914060).
S584_D600dup	duplication	gain of function - predicted	FLT3 S584_D600dup indicates the insertion of 17 duplicate amino acids, serine (S)-584 through aspartic acid (D)-600, in the juxtamembrane domain of the Flt3 protein (PMID: 14759363). S584_D600dup has not been biochemically characterized, but can be predicted to lead to activation of Flt3 based on the effects of other Flt3 internal tandem duplication (ITD) mutations (PMID: 12970773, PMID: 9737679, PMID: 11090077).
S584_F605dup	duplication	gain of function - predicted	FLT3 S584_F605dup indicates the insertion of 22 duplicate amino acids, serine (S)-584 through phenylalanine (F)-605, in the juxtamembrane domain of the Flt3 protein (PMID: 14759363). S584_F605dup has not been biochemically characterized, but can be predicted to lead to activation of Flt3 based on the effects of other Flt3 internal tandem duplication (ITD) mutations (PMID: 12970773, PMID: 9737679, PMID: 11090077).
S585_F594dup	duplication	gain of function - predicted	FLT3 S585_F594dup indicates the insertion of ten duplicate amino acids, serine (S)-585 through phenylalanine (F)-594, in the juxtamembrane domain of the Flt3 protein (PMID: 14759363). S585_F594dup has not been biochemically characterized, but can be predicted to lead to activation of Flt3 based on the effects of other Flt3 internal tandem duplication (ITD) mutations (PMID: 12970773, PMID: 9737679, PMID: 11090077).
S618L	missense	unknown	FLT3 S618L lies within the protein kinase domain of the Flt3 protein (UniProt.org). S618L has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2024).
S652G	missense	unknown	FLT3 S652G lies within the protein kinase domain of the Flt3 protein (UniProt.org). S652G has been identified in sequencing studies (PMID: 25847190), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2024).
S705N	missense	unknown	FLT3 S705N lies within the protein kinase domain of the Flt3 protein (UniProt.org). S705N has been identified in the scientific literature (PMID: 32040554), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Sep 2024).
S71I	missense	unknown	FLT3 S71I lies within the extracellular domain of the Flt3 protein (UniProt.org). S71I has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, May 2024).
S838R	missense	unknown	FLT3 S838R lies within the protein kinase domain of the Flt3 protein (UniProt.org). S838R has not been characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, May 2024).
S840_N841insGS	insertion	gain of function	FLT3 S840_N841insGS results in the insertion of two amino acids in the protein kinase domain of the Flt3 protein between amino acids 840 and 841 (UniProt.org). S840_N841insGS results in constitutive phosphorylation Flt3 and transformation of cultured cells (PMID: 12384447).
S88F	missense	unknown	FLT3 S88F lies within the extracellular domain of the Flt3 protein (UniProt.org). S88F has been identified in sequencing studies (PMID: 26950094), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2024).
S941_F942insRVS	insertion	gain of function - predicted	FLT3 S941_F942insRVS results in the insertion of three amino acids in the protein kinase domain of the Flt3 protein between amino acids 941 and 942 (UniProt.org). S941_F942insRVS results in increased Flt3 phosphorylation in culture (PMID: 37246158), and therefore, is predicted to lead to a gain of Flt3 protein function.
S985fs	frameshift	unknown	FLT3 S985fs results in a change in the amino acid sequence of the Flt3 protein beginning at aa 985 of 993, likely resulting in premature truncation of the functional protein (UniProt.org). S985fs has been identified in sequencing studies (PMID: 25562415), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2024).
T136N	missense	unknown	FLT3 T136N lies within the extracellular domain of the Flt3 protein (UniProt.org). T136N has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Dec 2023).
T167A	missense	no effect - predicted	FLT3 T167A lies within the extracellular domain of the Flt3 protein (UniProt.org). T167A does not result in Il-3 independent growth of cultured cells (PMID: 18068628), and therefore, is predicted to have no effect on Flt3 protein function.
T227M	missense	unknown	FLT3 T227M lies within the extracellular domain of the Flt3 protein (UniProt.org). T227M has been identified in the scientific literature (PMID: 36739272, PMID: 29519565, PMID: 27534895), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, May 2024).
T628I	missense	unknown	FLT3 T628I lies within the protein kinase domain of the Flt3 protein (UniProt.org). T628I has been identified in sequencing studies (PMID: 25847190), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, May 2024).
T820A	missense	unknown	FLT3 T820A lies within the protein kinase domain of the Flt3 protein (UniProt.org). T820A has been identified in the scientific literature (PMID: 25847190), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Dec 2023).
V194M	missense	no effect - predicted	FLT3 V194M lies within the extracellular domain of the Flt3 protein (UniProt.org). V194M does not result in Il-3 independent growth of cultured cells (PMID: 18068628), and therefore, is predicted to have no effect on Flt3 protein function.
V197A	missense	unknown	FLT3 V197A lies within the extracellular domain of the Flt3 protein (UniProt.org). V197A has been identified in sequencing studies (PMID: 25562415), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Dec 2023).
V220G	missense	unknown	FLT3 V220G lies within the extracellular domain of the Flt3 protein (UniProt.org). V220G has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, May 2024).
V557A	missense	unknown	FLT3 V557A lies within the transmembrane domain of the Flt3 protein (UniProt.org). V557A has been identified in sequencing studies (PMID: 29386642), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, May 2024).
V557I	missense	unknown	FLT3 V557I lies within the transmembrane domain of the Flt3 protein (UniProt.org). V557I has been identified in the scientific literature (PMID: 18068628), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Dec 2023).
V579A	missense	gain of function	FLT3 V579A lies within the cytoplasmic domain of the Flt3 protein (UniProt.org). V579A results in constitutive phosphorylation of Flt3, activation of Stat5 signaling, and is transforming in culture (PMID: 16410449).
V579fs	frameshift	loss of function - predicted	FLT3 V579fs results in a change in the amino acid sequence of the Flt3 protein beginning at aa 579 of 993, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), V579fs is predicted to lead to a loss of Flt3 protein function.
V581*	nonsense	loss of function - predicted	FLT3 V581* results in a premature truncation of the Flt3 protein at amino acid 581 of 993 (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), V581* is predicted to lead to a loss of Flt3 protein function.
V581fs	frameshift	loss of function - predicted	FLT3 V581fs results in a change in the amino acid sequence of the Flt3 protein beginning at aa 581 of 993, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), V581fs is predicted to lead to a loss of Flt3 protein function.
V592A	missense	gain of function	FLT3 V592A lies within a region important for maintaining kinase activity in the Flt3 protein (UniProt.org). V592A results in constitutive phosphorylation of Flt3, activation of Stat5 signaling, upregulation of Bcl-x(L), and is transforming in cell culture (PMID: 16410449).
V592G	missense	gain of function	FLT3 V592G lies within a region important for maintaining kinase activity in the Flt3 protein (UniProt.org). V592G results in constitutive phosphorylation of Flt3, activation of Stat3/5, Akt, and Erk signaling, and is transforming in culture (PMID: 18068628).
V637F	missense	unknown	FLT3 V637F lies within the protein kinase domain of the Flt3 protein (UniProt.org). V637F has been identified in sequencing studies (PMID: 29936259), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, May 2024).
V637I	missense	unknown	FLT3 V637I lies within the protein kinase domain of the Flt3 protein (UniProt.org). V637I has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, May 2024).
V819I	missense	unknown	FLT3 V819I lies within the protein kinase domain of the Flt3 protein (UniProt.org). V819I has not been characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, May 2024).
V824fs	frameshift	unknown	FLT3 V824fs results in a change in the amino acid sequence of the Flt3 protein beginning at aa 824 of 993, likely resulting in premature truncation of the functional protein (UniProt.org). V824fs has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, May 2024).
V825*	nonsense	unknown	FLT3 V825* results in a premature truncation of the Flt3 protein at amino acid 825 of 993 within the protein kinase domain of the Flt3 protein (UniProt.org). V825* has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, May 2024).
V843A	missense	unknown	FLT3 V843A lies within the protein kinase domain of the Flt3 protein (UniProt.org). V843A has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, May 2024).
V843I	missense	unknown	FLT3 V843I lies within the protein kinase domain of the Flt3 protein (UniProt.org). V843I has been demonstrated to promote secondary drug resistance in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 35344039), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Mar 2024).	Y
W105C	missense	unknown	FLT3 W105C lies within the extracellular domain of the Flt3 protein (UniProt.org). W105C has been identified in sequencing studies (PMID: 34476097), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Dec 2023).
W603_E604insDREYEYDLKW	insertion	gain of function - predicted	FLT3 W603_E604insDREYEYDLKW results in the insertion of ten amino acids in the juxtamembrane domain of the Flt3 protein between amino acids 603 and 604 (UniProt.org). W603_E604insDREYEYDLKW has not been biochemically characterized, but can be predicted to lead to activation of Flt3 based on the effects of other Flt3 internal tandem duplication (ITD) mutations (PMID: 12970773, PMID: 9737679, PMID: 11090077).
wild-type	none	no effect	Wild-type FLT3 indicates that no mutation has been detected within the FLT3 gene.
Y364H	missense	no effect - predicted	FLT3 Y364H lies within the extracellular domain of the Flt3 protein (UniProt.org). Y364H does not result in Il-3 independent growth in cultured cells (PMID: 18068628), and therefore, is predicted to have no effect on Flt3 protein function.
Y457C	missense	unknown	FLT3 Y457C lies within the extracellular domain of the Flt3 protein (UniProt.org). Y457C has been identified in sequencing studies (PMID: 27294619), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, May 2024).
Y572C	missense	gain of function	FLT3 Y572C lies within the cytoplasmic domain of the Flt3 protein (UniProt.org). Y572C results in constitutive phosphorylation of Flt3, activation of Erk, Akt and Stat signaling, and is transforming in cell culture (PMID: 18068628, PMID: 30651561).
Y572del	deletion	gain of function	FLT3 Y572del results in the deletion of an amino acid in the juxtamembrane domain of the Flt3 protein at amino acid 572 (PMID: 14759363). Y572del confers a gain of function to the Flt3 protein as demonstrated by activation of Stat5, Akt, and Erk1/2 signaling and IL3-independent growth in cultured cells (PMID: 33914060).
Y589D	missense	no effect - predicted	FLT3 Y589D lies within the juxtamembrane domain of the Flt3 protein (PMID: 14759363). Y589D results in Stat5 phosphorylation similar to wild-type Flt3 and does not support IL3-independent growth in cultured cells (PMID: 38049555), and therefore, is predicted to have no effect on Flt3 protein function.
Y589_D593del	deletion	unknown	FLT3 Y589_D593del results in the deletion of five amino acids in the juxtamembrane domain of the Flt3 protein from amino acids 589 to 593 (PMID: 37246158). Y589_D593del results in Flt3 phosphorylation similar to wild-type Flt3 in culture (PMID: 37246158), but has not been fully biochemically characterized and therefore, its effect on Flt3 protein function is unknown.
Y591*	nonsense	loss of function - predicted	FLT3 Y591* results in a premature truncation of the Flt3 protein at amino acid 591 of 993 (UniProt.org). Y591* results in loss of kinase activity in culture (PMID: 37246158), and therefore, is predicted to lead to a loss of Flt3 protein function.
Y591D	missense	unknown	FLT3 Y591D lies within a region important for maintaining kinase activity in the Flt3 protein (UniProt.org). Y591D has been identified in the scientific literature (PMID: 14984498), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Dec 2023).
Y597_E598insAGSSDNEYFYVDFREY	insertion	gain of function - predicted	FLT3 Y597_E598insAGSSDNEYFYVDFREY results in the insertion of 16 amino acids in the juxtamembrane domain of the Flt3 protein between amino acids 597 and 598 (PMID: 14759363). Y597_E598insAGSSDNEYFYVDFREY has not been biochemically characterized, but can be predicted to lead to activation of Flt3 based on the effects of other Flt3 internal tandem duplication (ITD) mutations (PMID: 12970773, PMID: 9737679, PMID: 11090077).
Y597_E598insDEYFYVDFREY	insertion	gain of function - predicted	FLT3 Y597_E598insDEYFYVDFREY results in the insertion of 11 amino acids in the juxtamembrane domain of the Flt3 protein between amino acids 597 and 598 (PMID: 14759363). Y597_E598insDEYFYVDFREY has not been biochemically characterized, but can be predicted to lead to activation of Flt3 based on the effects of other Flt3 internal tandem duplication (ITD) mutations (PMID: 12970773, PMID: 9737679, PMID: 11090077).
Y597_K602dup	duplication	gain of function - predicted	FLT3 Y597_K602dup indicates the insertion of six duplicate amino acids, tyrosine (Y)-597 through lysine (K)-602, in the juxtamembrane domain of the Flt3 protein (PMID: 14759363). Y597_K602dup has not been biochemically characterized, but can be predicted to lead to a gain of Flt3 protein function based on the effects of other Flt3 internal tandem duplication (ITD) mutations (PMID: 12970773, PMID: 9737679, PMID: 11090077).
Y599F	missense	loss of function	FLT3 Y599F lies within the cytoplasmic domain of the Flt3 protein (UniProt.org). Y599F results in sustained ligand-dependent phosphorylation of Flt3, but decreased ligand-dependent Erk activation and cell survival in culture due to the loss of Shp2 interaction (PMID: 16684964).
Y599_D600insEYEYEYEY	insertion	gain of function - predicted	FLT3 Y599_D600insEYEYEYEY results in the insertion of eight amino acids in the juxtamembrane domain of the Flt3 protein between amino acids 599 and 600 (UniProt.org). Y599_D600insEYEYEYEY has not been biochemically characterized, but can be predicted to lead to a gain of Flt3 protein function based on the effects of other Flt3 internal tandem duplication (ITD) mutations (PMID: 12970773, PMID: 9737679, PMID: 11090077).
Y599_D600insGLYVDFREYEY	insertion	gain of function - predicted	FLT3 Y599_D600insGLYVDFREYEY results in the insertion of 11 amino acids in the juxtamembrane domain of the Flt3 protein between amino acids 599 and 600 (PMID: 11756186). Y599_D600insGLYVDFREYEY results in transformation in cell culture (PMID: 11756186) and therefore, is predicted to lead to a gain of Flt3 protein function.
Y599_D600insPAPQIMSTSTLISENMNIA	insertion	gain of function - predicted	FLT3 Y599_D600insPAPQIMSTSTLISENMNIA results in the insertion of nineteen amino acids in the juxtamembrane domain of the Flt3 protein between amino acids 599 and 600 (UniProt.org). Y599_D600insPAPQIMSTSTLISENMNIA has not been biochemically characterized, but can be predicted to lead to a gain of Flt3 protein function based on the effects of other Flt3 internal tandem duplication (ITD) mutations (PMID: 12970773, PMID: 9737679, PMID: 11090077).
Y599_D600insSTDNEYFYVDFREYEY	insertion	gain of function - predicted	FLT3 Y599_D600insSTDNEYFYVDFREYEY results in the insertion of sixteen amino acids in the juxtamembrane domain of the Flt3 protein between amino acids 599 and 600 (UniProt.org). Y599_D600insSTDNEYFYVDFREYEY has not been biochemically characterized, but can be predicted to lead to a gain of Flt3 protein function based on the effects of other Flt3 internal tandem duplication (ITD) mutations (PMID: 12970773, PMID: 9737679, PMID: 11090077).
Y599_E604dup	duplication	gain of function - predicted	FLT3 Y599_E604dup indicates the insertion of six duplicate amino acids, tyrosine (Y)-599 through glutamic acid (E)-604, in the juxtamembrane domain of the Flt3 protein (PMID: 11756186). Y599_E604dup has not been biochemically characterized, but can be predicted to lead to activation of Flt3 based on the effects of other Flt3 internal tandem duplication (ITD) mutations (PMID: 12970773, PMID: 9737679, PMID: 11090077).
Y693C	missense	unknown	FLT3 Y693C lies within the protein kinase domain of the Flt3 protein (UniProt.org). Y693C has been demonstrated to promote secondary drug resistance in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 32040554, PMID: 35395091), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Dec 2023).	Y
Y693F	missense	unknown	FLT3 Y693F lies within the protein kinase domain of the Flt3 protein (UniProt.org). Y693F has been identified in the scientific literature (PMID: 35395091), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Dec 2023).
Y693N	missense	unknown	FLT3 Y693N lies within the protein kinase domain of the Flt3 protein (UniProt.org). Y693N has been demonstrated to promote secondary drug resistance in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 32040554, PMID: 35395091), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Dec 2023).	Y
Y842C	missense	gain of function	FLT3 Y842C lies within the protein kinase domain of the Flt3 protein (UniProt.org). Y842C results in constitutive phosphorylation of Flt3, activation of Stat5 signaling, is transforming in cell culture (PMID: 15345593), and has been demonstrated to promote secondary drug resistance in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 22504184, PMID: 29187377).	Y
Y842D	missense	unknown	FLT3 Y842D lies within the protein kinase domain of the Flt3 protein (UniProt.org). Y842D has been demonstrated to occur as a secondary resistance mutation in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 19318574, PMID: 25487917), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, May 2024).	Y
Y842H	missense	gain of function	FLT3 Y842H lies within the protein kinase domain of the Flt3 protein (UniProt.org). Y842H results in increased phosphorylation of Flt3, activation of Stat5 and Mapk, and transformation of cultured cells (PMID: 14604974), and is associated with acquired resistance in the context of FLT3-ITD (PMID: 25847190, PMID: 22504184, PMID: 29187377).	Y
Y842R	missense	unknown	FLT3 Y842R lies within the protein kinase domain of the Flt3 protein (UniProt.org). Y842R has been identified in the scientific literature (PMID: 32247263), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Dec 2023).
Y842S	missense	gain of function - predicted	FLT3 Y842S lies within the activation loop of the protein kinase domain of the Flt3 protein (PMID: 25837374). Y842S has been demonstrated to occur as a secondary resistance mutation in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 25847190), and results in increased catalytic activity and autophosphorylation of the Flt3 kinase domain in in vitro assays, and therefore, is predicted to lead to a gain of Flt3 protein function (PMID: 31943770).	Y

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