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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* |
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_004972.4 | 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_001322194.2 | 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_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_001322194.1 | 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_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 |
NM_001322194 | 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 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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