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Gene JAK2
Variant R683*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions JAK2 R683* results in a premature truncation of the Jak2 protein at amino acid 683 of 1182 (UniProt.org). Due to the loss of a portion of protein kinase domain 1 and all of protein kinase domain 2 (UniProt.org), R683* is predicted to lead to a loss of Jak2 protein function.
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 inact mut JAK2 R683*

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Transcript NM_004972.4
gDNA chr9:g.5078360A>T
cDNA c.2047A>T
Protein p.R683*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322196 chr9:g.5078360A>T c.2047A>T p.R683* RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5078360A>T c.2047A>T p.R683* RefSeq GRCh38/hg38
NM_004972 chr9:g.5078360A>T c.2047A>T p.R683* RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5078360A>T c.2047A>T p.R683* RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5078360A>T c.2047A>T p.R683* RefSeq GRCh38/hg38
NM_001322194 chr9:g.5078360A>T c.2047A>T p.R683* RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5078360A>T c.2047A>T p.R683* RefSeq GRCh38/hg38
NM_001322195 chr9:g.5078360A>T c.2047A>T p.R683* RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5078360A>T c.2047A>T p.R683* RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5078360A>T c.2047A>T p.R683* RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5078360A>T c.2047A>T p.R683* RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5078360A>T c.2047A>T p.R683* RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
JAK2 inact mut melanoma predicted - resistant Pembrolizumab Case Reports/Case Series Actionable In a clinical study, a melanoma patient treated with Keytruda (pembrolizumab) initially demonstrated a partial response, however, post 734 days developed disease progression due to a splice site mutation in JAK2, which resulted in an intron inclusion and an early stop codon, leading to a loss of protein expression (PMID: 27433843). 27433843
JAK2 mutant B-cell acute lymphoblastic leukemia not applicable N/A Guideline Prognostic JAK2 mutations are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org). detail...
JAK2 mutant essential thrombocythemia not applicable N/A Guideline Diagnostic JAK2 mutations aid in the diagnosis of essential thrombocythemia (NCCN.org). detail...
JAK2 mutant childhood B-cell acute lymphoblastic leukemia not applicable N/A Guideline Prognostic JAK2 mutations are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org). detail...
JAK2 mutant myelofibrosis not applicable N/A Guideline Diagnostic JAK2 mutations aid in the diagnosis of primary myelofibrosis (NCCN.org). detail...