FLT3

Chr 13

fms related receptor tyrosine kinase 3

Also known as: CD135, FLK-2, FLK2, STK1

This gene encodes FMS-like tyrosine kinase 3, a receptor tyrosine kinase that regulates hematopoietic cell differentiation, proliferation, and survival by binding FLT3 ligand and activating downstream signaling pathways including RAS, MTOR, and STAT5. Somatic mutations causing constitutive kinase activation result in acute lymphoblastic leukemia and acute myeloid leukemia. The gene shows high constraint against loss-of-function variants (LOEUF 0.35), and germline mutations causing pediatric neurologic disease have not been established.

OMIMResearchSummary from RefSeq, OMIM, UniProt
MultiplemechanismLOEUF 0.353 OMIM phenotypes
Clinical SummaryFLT3
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Gene-Disease Validity (ClinGen)
leukemia, acute myeloid, susceptibility to · ADLimited

Limited evidence — not for standalone diagnostic reporting

Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.61) — some intolerance to loss-of-function variants.
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Clinical Trials
12 active or recruiting trials — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint
0.35LOEUF
pLI 0.608
Z-score 5.42
OE 0.22 (0.140.35)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
0.98Z-score
OE missense 0.88 (0.810.95)
461 obs / 524.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.22 (0.140.35)
00.351.4
Missense OE0.88 (0.810.95)
00.61.4
Synonymous OE1.01
01.21.6
LoF obs/exp: 12 / 55.6Missense obs/exp: 461 / 524.3Syn Z: -0.10
DN
0.6648th %ile
GOF
0.73top 25%
LOF
0.3552th %ile

This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

GOFprediction above median
DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

FLT3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

AML/MDS

Tolerability and Efficacy of Midostaurin to 10-day Decitabine in Unfit Adult AML and High Risk MDS Patients

ACTIVE NOT RECRUITING
NCT04097470Phase PHASE2Stichting Hemato-Oncologie voor Volwassenen NederlandStarted 2019-12-05
DecitabineMidostaurin
Acute Myeloid Leukemia

Venetoclax and HMA Treatment of Older and Unfit Adults With FLT3 Mutated Acute Myeloid Leukemia (AML) (A MyeloMATCH Treatment Trial)

RECRUITING
NCT06317649Phase PHASE2National Cancer Institute (NCI)Started 2024-09-27
AzacitidineBiospecimen CollectionBone Marrow Aspiration
Acute Myeloid LeukemiaAML, AdultAML With Gene Mutations

Revumenib in Combination With 7+3 + Midostaurin in AML

RECRUITING
NCT06313437Phase PHASE1Richard Stone, MDStarted 2024-12-06
RevumenibMidostaurinCytarabine
AMLRefractoryRelapsed

Multicenter, Platform-type Clinical Study of Refractory/Recurrent Acute Myeloid Leukemia

RECRUITING
NCT06265545Phase NAInstitute of Hematology & Blood Diseases Hospital, ChinaStarted 2024-02-22
Ivosidenib,Venetoclax,gilteritinib,Selinexor
AML, Adult

MRD-positive AML Clinical Study

RECRUITING
NCT07131059Phase NAInstitute of Hematology & Blood Diseases Hospital, ChinaStarted 2024-05-11
IvosidenibGilteritinibVenetoclax
Acute Myeloid Leukemia With t(9;11)(p22.3;q23.3); MLLT3-KMT2AFibroblast Growth Factor Basic Form MeasurementFLT3 Internal Tandem Duplication

Nintedanib and Azacitidine in Treating Participants With HOX Gene Overexpression Relapsed or Refractory Acute Myeloid Leukemia

ACTIVE NOT RECRUITING
NCT03513484Phase PHASE1Northwestern UniversityStarted 2018-11-14
AzacitidineLaboratory Biomarker AnalysisNintedanib
Acute Myeloid Leukemia

Combination of Midostaurin and Gemtuzumab Ozogamicin in First-line Standard Therapy for Acute Myeloid Leukemia (MOSAIC)

RECRUITING
NCT04385290Phase PHASE1, PHASE2Technische Universität DresdenStarted 2020-09-04
MODULE: conventional chemotherapy (Cytarabine+Daunorubicin) in combination with midostaurin+GOMAGNOLIA-trial: Midostaurin associated with conventional chemotherapy (AraC+DNR)+GOMAGNOLIA-trial: conventional chemotherapy (AraC+DNR)+GO
ALL, AdultAML, AdultAcute Leukaemia

A Study of BN104 in the Treatment of Acute Leukemia

ACTIVE NOT RECRUITING
NCT06052813Phase PHASE1, PHASE2Institut de Recherches Internationales Servier (I.R.I.S.)Started 2023-10-19
BN104 monotherapyBN104 monotherapyBN104 monotherapy - rp2d
Acute Myeloid Leukemia

The Prognostic Significance of Platelet to White Blood Cell Ratio (PWR) in Patients With Acute Myeloid Leukemia

NOT YET RECRUITING
NCT07115537Assiut UniversityStarted 2025-09-01
Acute Myeloid Leukemia

Testing Oral Decitabine and Cedazuridine (ASTX727) in Combination With Venetoclax for Higher-Risk Acute Myeloid Leukemia Patients

ACTIVE NOT RECRUITING
NCT04817241Phase PHASE1, PHASE2National Cancer Institute (NCI)Started 2022-02-10
Biospecimen CollectionBone Marrow Aspiration and BiopsyCytarabine
Acute Myeloid Leukemia (AML)FLT3-mutated Acute Myeloid Leukemia

A Study of Gilteritinib, Venetoclax and Azacitidine as a Combined Treatment for People Newly Diagnosed With Acute Myeloid Leukemia

ACTIVE NOT RECRUITING
NCT05520567Phase PHASE1, PHASE2Astellas Pharma Global Development, Inc.Started 2023-01-31
GilteritinibVenetoclaxAzacitidine
Acute Myeloid LeukemiaMyelodysplastic Syndrome With Excess Blasts-2

A Study of Gilteritinib Versus Midostaurin in Combination With Induction and Consolidation Therapy Followed by One-year Maintenance in Patients With Newly Diagnosed Acute Myeloid Leukemia or Myelodysplastic Syndromes With Excess Blasts-2 With FLT3 Mutations Eligible for Intensive Chemotherapy

ACTIVE NOT RECRUITING
NCT04027309Phase PHASE3Stichting Hemato-Oncologie voor Volwassenen NederlandStarted 2019-12-20
GilteritinibMidostaurin
Clinical Literature
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