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Gene Symbol FLT3
Synonyms CD135 | FLK-2 | FLK2 | STK1
Gene Description FLT3, fms related receptor tyrosine kinase 3, activates Akt, Ras, and Erk pathways to regulate differentiation, proliferation, and survival of hematopoietic progenitor cells (PMID: 29316714, PMID: 28538663). Activating mutations of FLT3 are common in hematologic tumors (PMID: 19467916) and the internal tandem duplication (ITD) mutation is commonly observed in acute myeloid leukemia (PMID: 30181385, PMID: 32241850).

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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, Apr 2020).
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, Jul 2020). 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: 17229632, PMID: 17620426), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Sep 2020). 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 - predicted FLT3 A680V lies within the N-terminal kinase domain of the Flt3 protein (PMID: 15976757). A680V results in autophosphorylation of Flt3 in culture in one study (ASH, 2015, abstract no. 87) and therefore, is predicted to lead to a gain of Flt3 protein function.
A814S missense unknown FLT3 A814S lies within the protein kinase domain of the Flt3 protein (UniProt.org). A814S has been identified in sequencing studies (PMID: 24030381), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Jul 2020).
A848P missense gain of function - predicted FLT3 A848P lies within the protein kinase domain of the Flt3 protein (UniProt.org). A848P results in cell proliferation independent of growth factor, Flt3 phosphorylation, and Erk activation in culture (Blood; 2009, 114;22, Abstract #3982), and therefore, is predicted to lead to a gain of Flt3 protein function.
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, Apr 2020).
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.
C695S missense unknown FLT3 C695S lies within the protein kinase domain of the Flt3 protein (UniProt.org). C695S has been demonstrated to confer resistance to FF-10101-01 (PMID: 29187377), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Sep 2020). Y
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 and therefore, is predicted to have no effect on Flt3 protein function (PMID: 30651561).
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 protein 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, Apr 2020).
D593_D600dup duplication gain of function - predicted FLT3 D593_D600dup indicates the insertion of 8 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).
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, Sep 2020). 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, Sep 2020).
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, Apr 2020).
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 acquired resistance to sorafenib (PMID: 24227820), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Sep 2020). Y
D835G missense gain of function - predicted FLT3 D835G lies within the activation loop of the protein kinase domain of the Flt3 protein (UniProt.org, PMID: 11290608). D835G results in autophosphorylation of Flt3 in one study (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, May 2020). Y
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 aspartic acid (D) at amino acid 835 being replaced 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) and therefore, are predicted to lead to a gain of Flt3 protein function.
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, Sep 2020). 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: 19318574, PMID: 25847190), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Mar 2020). Y
D839N missense unknown FLT3 D839N lies within the activation loop of 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, Sep 2020). 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, Sep 2020).
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, Sep 2020).
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, Sep 2020).
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, Sep 2020).
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 region 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).
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 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 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, May 2020).
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, Sep 2020).
E77K missense unknown FLT3 E77K lies within the extracellular domain of the Flt3 protein (UniProt.org). E77K has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Sep 2020).
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, Sep 2020).
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, Sep 2020).
exon 14 ins insertion 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.
exon14 unknown unknown FLT3 exon 14, which corresponds to the tyrosine kinase domain, 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, Jul 2020).
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, Sep 2020).
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 region 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_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 7 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).
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 function.
F612_G613insGYVDFREYEYDLKWEFRPRENLEF insertion gain of function - predicted FLT3 F612_G613insGYVDFREYEYDLKWEFRPRENLEF results in the insertion of 24 amino acids in the cytoplasmic juxtamembrane region of the Flt3 protein between amino acids F612 and G613 (UniProt.org, PMID: 11756186). F612_F613insGYVDFREYEYDLKWEFRPRENLEF results in transformation of cultured cells (PMID: 11756186) and therefore, is predicted to lead to a gain of Flt3 protein function.
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, Jul 2020). 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, Sep 2020). 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 and therefore, is predicted to have no effect on Flt3 protein function (PMID: 30651561). 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, Sep 2020).
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, May 2020).
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, Sep 2020).
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, Sep 2020).
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, Sep 2020). Y
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, Sep 2020).
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.
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, Sep 2020). Y
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, Sep 2020).
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, Sep 2020).
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, Sep 2020).
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, May 2020).
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, Sep 2020).
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, Sep 2020).
I836M missense unknown FLT3 I836M lies within the protein kinase domain of the Flt3 protein (UniProt.org). I836M has been identified in sequencing studies (PMID: 15390271), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Sep 2020).
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), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Sep 2020).
I836X missense unknown FLT3 I836X indicates any Flt3 missense mutation which results in the isoleucine (I) at amino acid 836 being replaced 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, Sep 2020).
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, May 2020).
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, Sep 2020).
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 compared to wild-type Flt3 (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 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, Sep 2020).
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, Sep 2020).
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 and therefore, is predicted to have no effect on Flt3 protein function (PMID: 30651561).
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 function.
L610_E611insCSSDNEYFYVDFREYEYDLKWEFPRENL insertion gain of function FLT3 L610_E611insCSSDNEYFYVDFREYEYDLKWEFPRENL results in the insertion of 28 amino acids in the cytoplasmic juxtamembrane region 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, Sep 2020).
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, Sep 2020).
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, Sep 2020).
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, Sep 2020).
LOH deletion unknown FLT3 LOH indicates the loss of one parental copy of the FLT3 gene, resulting in loss of heterozygosity.
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, Sep 2020). Y
M665T missense gain of function - predicted FLT3 M665T lies within the protein kinase domain of the Flt3 protein (UniProt.org). M665T results similar JAK/STAT signaling, but increased NFkappaB 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 in one study (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 been demonstrated to confer drug resistance when in the context of FLT3 internal tandem duplication (FLT3-ITD) compound mutations co-occurring in tandem with S838R and D839H (PMID: 25847190), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Sep 2020). Y
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, Mar 2020).
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 function.
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 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, Sep 2020).
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, Sep 2020). 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, Sep 2020). 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. Y
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, Sep 2020). Y
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), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Sep 2020).
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, Apr 2020).
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, Sep 2020).
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, May 2020).
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, May 2020).
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, Sep 2020).
P738R missense unknown FLT3 P738R lies within the protein kinase domain of the Flt3 protein (UniProt.org). P738R has not been characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Sep 2020).
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, Sep 2020).
P893L missense unknown FLT3 P893L lies within the protein kinase domain of the Flt3 protein (UniProt.org). P893L has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Sep 2020).
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, Mar 2020).
positive unknown unknown FLT3 positive indicates the presence of the FLT3 gene, mRNA, and/or protein.
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, Sep 2020).
R387Q missense unknown FLT3 R387Q lies within the extracellular domain of the Flt3 protein (UniProt.org). R387Q has been identified in sequencing studies (PMID: 26689913), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Sep 2020).
R595_L601dup duplication gain of function FLT3 R595_L601dup (also referred to as FLT3 L601_K602insREYEYDL) indicates the insertion of 7 duplicate amino acids, arginine (R)-595 through leucine(L)-601, in the juxtamembrane region 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 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).
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, Sep 2020). Y
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, Sep 2020).
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, May 2020).
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, Sep 2020).
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, May 2020).
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), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Sep 2020).
S585_F594dup duplication gain of function - predicted FLT3 S585_F594dup indicates the insertion of 10 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, Sep 2020).
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, Sep 2020).
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, Sep 2020).
S838R missense unknown FLT3 S838R lies within the protein kinase domain of the Flt3 protein (UniProt.org). S838R has been demonstrated to confer drug resistance in the context of FLT3 internal tandem duplication (FLT3-ITD) compound mutations co-occurring in tandem with M837G and D839H (PMID: 25847190), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Sep 2020). Y
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).
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, Jul 2020).
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, May 2020).
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 in one study (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 sequencing studies (PMID: 26999641, PMID: 29519565, PMID: 27534895), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Sep 2020).
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, Sep 2020).
T820A missense unknown FLT3 T820A lies within the protein kinase domain of the Flt3 protein (UniProt.org). T820A 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, Sep 2020). Y
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 in one study (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, May 2020).
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, Sep 2020).
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, Sep 2020).
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, May 2020).
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 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 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 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).
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, Sep 2020).
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, Sep 2020).
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, Sep 2020).
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, Sep 2020).
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, Sep 2020).
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 (PMID: 18068628). Y364H does not result in IL-3 independent growth of cultured cells in one study (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, Sep 2020).
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).
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, May 2020).
Y597_K602dup duplication gain of function - predicted FLT3 Y597_K602dup indicates the insertion of 6 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 activation of Flt3 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 activation of Flt3 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 cytoplasmic juxtamembrane region 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 activation of Flt3 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 activation of Flt3 based on the effects of other Flt3 internal tandem duplication (ITD) mutations (PMID: 12970773, PMID: 9737679, PMID: 11090077).
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
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, May 2020).
Y842S missense unknown 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), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Sep 2020). Y
ETV6 - FLT3 fusion gain of function ETV6-FLT3 results from the fusion of ETV6 and FLT3, demonstrating the ability to transform cells in culture (PMID: 16761019) and has constitutively activated kinase activity (PMID: 19345670).