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Gene JAK2
Variant R1127K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions JAK2 R1127K does not lie within any known functional domains of the Jak2 protein (UniProt.org). R1127K has been demonstrated to occur as a secondary drug resistance mutation (PMID: 22916261), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2024).
Associated Drug Resistance Y
Category Variants Paths

JAK2 mutant JAK2 R1127K

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Transcript NM_004972.4
gDNA chr9:g.5126772G>A
cDNA c.3380G>A
Protein p.R1127K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322196 chr9:g.5126772G>A c.3380G>A p.R1127K RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5126772G>A c.3380G>A p.R1127K RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5126772G>A c.3380G>A p.R1127K RefSeq GRCh38/hg38
NM_004972 chr9:g.5126772G>A c.3380G>A p.R1127K RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5126772G>A c.3380G>A p.R1127K RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5126772G>A c.3380G>A p.R1127K RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5126772G>A c.3380G>A p.R1127K RefSeq GRCh38/hg38
NM_001322195 chr9:g.5126772G>A c.3380G>A p.R1127K RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5126772G>A c.3380G>A p.R1127K RefSeq GRCh38/hg38
NM_001322194 chr9:g.5126772G>A c.3380G>A p.R1127K RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5126772G>A c.3380G>A p.R1127K RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5126772G>A c.3380G>A p.R1127K RefSeq GRCh38/hg38

Filtering

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