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Gene JAK2
Variant G127D
Impact List missense
Protein Effect unknown
Gene Variant Descriptions JAK2 G127D lies within the FERM domain of the Jak2 protein (UniProt.org). G127D has been identified in the scientific literature (PMID: 28775167, PMID: 38618943), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2024).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 G127D

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Transcript NM_004972.4
gDNA chr9:g.5044432G>A
cDNA c.380G>A
Protein p.G127D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322196.2 chr9:g.5044432G>A c.380G>A p.G127D RefSeq GRCh38/hg38
NM_001322196 chr9:g.5044432G>A c.380G>A p.G127D RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5044432G>A c.380G>A p.G127D RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5044432G>A c.380G>A p.G127D RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5044432G>A c.380G>A p.G127D RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5044432G>A c.380G>A p.G127D RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5044432G>A c.380G>A p.G127D RefSeq GRCh38/hg38
NM_001322194 chr9:g.5044432G>A c.380G>A p.G127D RefSeq GRCh38/hg38
NM_001322204.1 chr9:g.5054775_5054776delGAinsAC c.380_381delGAinsAC p.G127D RefSeq GRCh38/hg38
NM_001322195 chr9:g.5044432G>A c.380G>A p.G127D RefSeq GRCh38/hg38
NM_001322204.2 chr9:g.5054775_5054776delGAinsAC c.380_381delGAinsAC p.G127D RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5044432G>A c.380G>A p.G127D RefSeq GRCh38/hg38
NM_004972 chr9:g.5044432G>A c.380G>A p.G127D RefSeq GRCh38/hg38
NM_001322204 chr9:g.5054775_5054776delGAinsAC c.380_381delGAinsAC p.G127D RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5044432G>A c.380G>A p.G127D RefSeq GRCh38/hg38

Filtering

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  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References