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Gene JAK2
Variant I682L
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions JAK2 I682L lies within protein kinase domain 1 of the Jak2 protein (UniProt.org). I682L demonstrates enzyme kinetics and structural stability similar to wild-type Jak2 in in vitro assays (PMID: 25940527), and therefore, is predicted to have no effect on Jak2 protein function.
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 I682L

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Transcript NM_004972.4
gDNA chr9:g.5078357A>C
cDNA c.2044A>C
Protein p.I682L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322194 chr9:g.5078357A>C c.2044A>C p.I682L RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5078357A>C c.2044A>C p.I682L RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5078357A>C c.2044A>C p.I682L RefSeq GRCh38/hg38
NM_001322196 chr9:g.5078357A>C c.2044A>C p.I682L RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5078357A>C c.2044A>C p.I682L RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5078357A>C c.2044A>C p.I682L RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5078357A>C c.2044A>C p.I682L RefSeq GRCh38/hg38
NM_001322195 chr9:g.5078357A>C c.2044A>C p.I682L RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5078357A>C c.2044A>C p.I682L RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5078357A>C c.2044A>C p.I682L RefSeq GRCh38/hg38
NM_004972 chr9:g.5078357A>C c.2044A>C p.I682L RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5078357A>C c.2044A>C p.I682L RefSeq GRCh38/hg38

Filtering

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References