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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
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.
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.
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.
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.
fusion fusion unknown FLT3 fusion indicates a fusion of the FLT3 gene, but the fusion partner is unknown.
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.
mutant unknown unknown FLT3 mutant indicates an unspecified mutation in the FLT3 gene.
rearrange unknown unknown FLT3 rearrangement indicates an unspecified rearrangement of the FLT3 gene.
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.
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.
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.
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, Mar 2020).
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, Mar 2020).
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.
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, Mar 2020).
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.
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).
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.
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, Mar 2020).
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).
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.
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.
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, Mar 2020).