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Gene JAK2
Variant V617F
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK2 V617F lies within the protein kinase domain 1 of the Jak2 protein (UniProt.org). V617F results in constitutive activation of Jak2 and downstream Stat5 and Erk, is transforming in cell culture, and leads to development of erythrocytosis in mouse models (PMID: 15858187, PMID: 15837627, PMID: 15793561, PMID: 28473624).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 V617F

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Transcript NM_004972.4
gDNA chr9:g.5073770G>T
cDNA c.1849G>T
Protein p.V617F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322195 chr9:g.5073770G>T c.1849G>T p.V617F RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5073770G>T c.1849G>T p.V617F RefSeq GRCh38/hg38
NM_001322196 chr9:g.5073770G>T c.1849G>T p.V617F RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5073770G>T c.1849G>T p.V617F RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5073770G>T c.1849G>T p.V617F RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5073770G>T c.1849G>T p.V617F RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5073770G>T c.1849G>T p.V617F RefSeq GRCh38/hg38
NM_004972 chr9:g.5073770G>T c.1849G>T p.V617F RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5073770G>T c.1849G>T p.V617F RefSeq GRCh38/hg38
NM_001322194 chr9:g.5073770G>T c.1849G>T p.V617F RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5073770G>T c.1849G>T p.V617F RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5073770G>T c.1849G>T p.V617F RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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Sorting

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Molecular Profile Protein Effect Treatment Approaches
JAK2 V617F gain of function JAK Inhibitor (Pan) JAK Inhibitor (Pan) - ATP competitive JAK2 Inhibitor JAK2 Inhibitor - ATP competitive
JAK2 V617F JAK2 Y931C
JAK2 V617F JAK2 E864K
JAK2 V617F JAK2 E985K
JAK2 V617F JAK2 G935R
JAK2 V617F JAK2 I960V
JAK2 V617F JAK2 M929I
JAK2 V617F JAK2 R938L
DNMT3A S837* JAK2 V617F
JAK2 V617F JAK2 E987D
JAK2 V617F JAK2 R971G
JAK2 V617F JAK2 L983F
JAK2 V617F JAK2 Y931C JAK2 S1025C
JAK2 V617F JAK2 Y931C JAK2 Y1045W
JAK2 V617F JAK2 Y931C JAK2 F1061W
JAK2 V617F JAK2 Y931C JAK2 V1075F
FLT3 exon 14 ins JAK2 V617F
JAK2 V617F TP53 R248W
JAK2 V617F TET2 loss