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Gene | JAK2 |
Variant | G48E |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | JAK2 G48E lies within the FERM domain of the Jak2 protein (UniProt.org). G48E has been identified in sequencing studies (PMID: 30811597, PMID: 25801821), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Mar 2024). |
Associated Drug Resistance | |
Category Variants Paths |
JAK2 mutant JAK2 G48E |
Transcript | NM_004972.4 |
gDNA | chr9:g.5022130G>A |
cDNA | c.143G>A |
Protein | p.G48E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001322194.2 | chr9:g.5022130G>A | c.143G>A | p.G48E | RefSeq | GRCh38/hg38 |
NM_001322195.2 | chr9:g.5022130G>A | c.143G>A | p.G48E | RefSeq | GRCh38/hg38 |
NM_004972.4 | chr9:g.5022130G>A | c.143G>A | p.G48E | RefSeq | GRCh38/hg38 |
NM_004972 | chr9:g.5022130G>A | c.143G>A | p.G48E | RefSeq | GRCh38/hg38 |
NM_001322194.1 | chr9:g.5022130G>A | c.143G>A | p.G48E | RefSeq | GRCh38/hg38 |
NM_001322194 | chr9:g.5022130G>A | c.143G>A | p.G48E | RefSeq | GRCh38/hg38 |
NM_001322196.1 | chr9:g.5022130G>A | c.143G>A | p.G48E | RefSeq | GRCh38/hg38 |
NM_001322195.1 | chr9:g.5022130G>A | c.143G>A | p.G48E | RefSeq | GRCh38/hg38 |
NM_004972.3 | chr9:g.5022130G>A | c.143G>A | p.G48E | RefSeq | GRCh38/hg38 |
NM_001322195 | chr9:g.5022130G>A | c.143G>A | p.G48E | RefSeq | GRCh38/hg38 |
NM_001322196 | chr9:g.5022130G>A | c.143G>A | p.G48E | RefSeq | GRCh38/hg38 |
NM_001322196.2 | chr9:g.5022130G>A | c.143G>A | p.G48E | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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