FLT3

CIViC ID: 24 · Entrez: 2322

Aliases: CD135,FLK-2,FLK2,STK1,FLT3

Description

FLT3 is an important cytokine receptor involved in normal hematopoiesis. Mutations in this gene are common in acute myeloid leukemia (AML) and screening for mutations in this gene has been recommended by the World Health Organization in patients with AML, particularly in cases of cytogenetically normal AML (CN-AML). FLT3 mutations commonly co-occur with mutations such as NPM1 that are associated with CN-AML and likely modulate prognostic impact. While FLT3-ITD mutations have been associated with poorer prognosis in AML, the prognostic impact of FLT3-TKD mutations are still up for debate.

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Variants (17)

CIViC ID	Name	HGVS	Type(s)
2619	Amplification
4341	D593del
437	D835 ASP835	NC_000013.10:g.28592642C>A	protein_altering_variant
612	D835H ASP835HIS,RS121913488	NM_004119.2:c.2503G>C,NP_004110.2:p.Asp835His,ENST00000241453.7:c.2503G>C,NC_000013.10:g.28592642C>G	missense_variant
613	D835H/Y ASP835HIS,ASP835TYR	NM_004119.2:c.2503G>C,NP_004110.2:p.Asp835His,NM_004119.2:c.2503G>T,NP_004110.2:p.Asp835Tyr,ENST00000241453.7:c.2503G>C,ENST00000241453.7:c.2503G>T	missense_variant
3075	D835I
1302	D835V RS121909646,ASP835VAL	ENST00000241453.7:c.2504A>T,NM_004119.2:c.2504A>T,NP_004110.2:p.Asp835Val,NC_000013.10:g.28592641T>A	missense_variant
3011	D835Y ASP835TYR,RS121913488	NC_000013.11:g.28018505C>A,NC_000013.10:g.28592642C>A,ENST00000241453.12:c.2503G>T,NM_004119.3:c.2503G>T,ENSP00000241453.7:p.Asp835Tyr,NP_004110.2:p.Asp835Tyr,LRG_457t1:c.2503G>T,NM_004119.2:c.2503G>T	missense_variant
3071	F691L
3232	I836
55	ITD		inframe_insertion
519	Mutation		gain_of_function_variant,transcript_variant
3201	N841I
603	Overexpression
540	T227M RS1933437,THR227MET	NM_004119.2:c.680C>T,NP_004110.2:p.Thr227Met,ENST00000241453.7:c.680C>T,NC_000013.10:g.28624294G>A	missense_variant,SNP
56	TKD MUTATION
3070	Y842C

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