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Gene JAK2
Variant M535I
Impact List missense
Protein Effect unknown
Gene Variant Descriptions JAK2 M535I does not lie within any known functional domains of the Jak2 protein (UniProt.org). The functional effect of M535I is conflicting, as M535I demonstrates signaling activity and ligand-independent growth similar to wild-type Jak2 in one study (PMID: 18755984), but has increased Jak2 kinase activity and is transforming in cell culture in another study (PMID: 19638629), and therefore, its effect on Jak2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 exon12 JAK2 M535I

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Transcript NM_004972.4
gDNA chr9:g.5070016G>C
cDNA c.1605G>C
Protein p.M535I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004972 chr9:g.5070016G>C c.1605G>C p.M535I RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5070016G>C c.1605G>C p.M535I RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5070016G>C c.1605G>C p.M535I RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5070016G>C c.1605G>C p.M535I RefSeq GRCh38/hg38
NM_001322196 chr9:g.5070016G>C c.1605G>C p.M535I RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5070016G>C c.1605G>C p.M535I RefSeq GRCh38/hg38
NM_001322194 chr9:g.5070016G>C c.1605G>C p.M535I RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5070016G>C c.1605G>C p.M535I RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5070016G>C c.1605G>C p.M535I RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5070016G>C c.1605G>C p.M535I RefSeq GRCh38/hg38
NM_001322195 chr9:g.5070016G>C c.1605G>C p.M535I RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5070016G>C c.1605G>C p.M535I RefSeq GRCh38/hg38

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