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Gene | FLT3 |
Variant | Y572C |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | 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). |
Associated Drug Resistance | |
Category Variants Paths |
FLT3 mutant FLT3 act mut FLT3 Y572C FLT3 mutant FLT3 exon14 FLT3 Y572C |
Transcript | NM_004119.3 |
gDNA | chr13:g.28034204T>C |
cDNA | c.1715A>G |
Protein | p.Y572C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |