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Gene JAK2
Variant E1080*
Impact List nonsense
Protein Effect unknown
Gene Variant Descriptions JAK2 E1080* results in a premature truncation of the Jak2 protein at amino acid 1080 of 1132 (UniProt.org). E1080* has been identified in sequencing studies (PMID: 28481359), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, May 2024).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 E1080*

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Transcript NM_004972.4
gDNA chr9:g.5126393G>T
cDNA c.3238G>T
Protein p.E1080*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322194.2 chr9:g.5126393G>T c.3238G>T p.E1080* RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5126393G>T c.3238G>T p.E1080* RefSeq GRCh38/hg38
NM_001322196 chr9:g.5126393G>T c.3238G>T p.E1080* RefSeq GRCh38/hg38
NM_001322194 chr9:g.5126393G>T c.3238G>T p.E1080* RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5126393G>T c.3238G>T p.E1080* RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5126393G>T c.3238G>T p.E1080* RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5126393G>T c.3238G>T p.E1080* RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5126393G>T c.3238G>T p.E1080* RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5126393G>T c.3238G>T p.E1080* RefSeq GRCh38/hg38
NM_001322195 chr9:g.5126393G>T c.3238G>T p.E1080* RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5126393G>T c.3238G>T p.E1080* RefSeq GRCh38/hg38
NM_004972 chr9:g.5126393G>T c.3238G>T p.E1080* RefSeq GRCh38/hg38

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