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Gene JAK2
Variant L634P
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions JAK2 L634P lies within protein kinase domain 1 of the Jak2 protein (UniProt.org). L634P results in activation of Stat5 similar to wild-type in a reporter assay (PMID: 26216197), and therefore, is predicted to have no effect on Jak2 protein function.
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 L634P

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Transcript NM_004972.4
gDNA chr9:g.5077489T>C
cDNA c.1901T>C
Protein p.L634P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322196 chr9:g.5077489T>C c.1901T>C p.L634P RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5077489T>C c.1901T>C p.L634P RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5077489T>C c.1901T>C p.L634P RefSeq GRCh38/hg38
NM_001322204 chr9:g.5080597T>C c.1901T>C p.L634P RefSeq GRCh38/hg38
NM_001322194 chr9:g.5077489T>C c.1901T>C p.L634P RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5077489T>C c.1901T>C p.L634P RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5077489T>C c.1901T>C p.L634P RefSeq GRCh38/hg38
NM_001322195 chr9:g.5077489T>C c.1901T>C p.L634P RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5077489T>C c.1901T>C p.L634P RefSeq GRCh38/hg38
NM_001322204.2 chr9:g.5080597T>C c.1901T>C p.L634P RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5077489T>C c.1901T>C p.L634P RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5077489T>C c.1901T>C p.L634P RefSeq GRCh38/hg38
NM_004972 chr9:g.5077489T>C c.1901T>C p.L634P RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5077489T>C c.1901T>C p.L634P RefSeq GRCh38/hg38
NM_001322204.1 chr9:g.5080597T>C c.1901T>C p.L634P RefSeq GRCh38/hg38

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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