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Gene JAK2
Variant K244R
Impact List missense
Protein Effect unknown
Gene Variant Descriptions JAK2 K244R lies within the FERM domain of the Jak2 protein (UniProt.org). K244R demonstrates sumoylation similar to wild-type Jak2 in culture (PMID: 29020972), but has not been fully biochemically characterized and therefore, its effect on Jak2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 K244R

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Transcript NM_004972.4
gDNA chr9:g.5054679A>G
cDNA c.731A>G
Protein p.K244R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322194.1 chr9:g.5054679A>G c.731A>G p.K244R RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5054679A>G c.731A>G p.K244R RefSeq GRCh38/hg38
NM_001322196 chr9:g.5054679A>G c.731A>G p.K244R RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5054679A>G c.731A>G p.K244R RefSeq GRCh38/hg38
NM_001322194 chr9:g.5054679A>G c.731A>G p.K244R RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5054679A>G c.731A>G p.K244R RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5054679A>G c.731A>G p.K244R RefSeq GRCh38/hg38
NM_001322195 chr9:g.5054679A>G c.731A>G p.K244R RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5054679A>G c.731A>G p.K244R RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5054679A>G c.731A>G p.K244R RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5054679A>G c.731A>G p.K244R RefSeq GRCh38/hg38
NM_004972 chr9:g.5054679A>G c.731A>G p.K244R RefSeq GRCh38/hg38

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries