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Gene | JAK2 |
Variant | Y613_G614insTSY |
Impact List | insertion |
Protein Effect | unknown |
Gene Variant Descriptions | JAK2 Y613_G614insTSY results in the insertion of three amino acids in the protein kinase domain 1 of the Jak2 protein between amino acids 613 and 614 (UniProt.org). Y613_G614insTSY has not been characterized in the scientific literature and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2024). |
Associated Drug Resistance | |
Category Variants Paths |
JAK2 mutant JAK2 Y613_G614insTSY |
Transcript | NM_004972.4 |
gDNA | chr9:g.5073760_5073761insACAAGCTAT |
cDNA | c.1839_1840insACAAGCTAT |
Protein | p.Y613_G614insTSY |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001322194.2 | chr9:g.5073760_5073761insACAAGCTAT | c.1839_1840insACAAGCTAT | p.Y613_G614insTSY | RefSeq | GRCh38/hg38 |
NM_004972 | chr9:g.5073760_5073761insACAAGCTAT | c.1839_1840insACAAGCTAT | p.Y613_G614insTSY | RefSeq | GRCh38/hg38 |
NM_004972.3 | chr9:g.5073760_5073761insACAAGCTAT | c.1839_1840insACAAGCTAT | p.Y613_G614insTSY | RefSeq | GRCh38/hg38 |
NM_001322194 | chr9:g.5073760_5073761insACAAGCTAT | c.1839_1840insACAAGCTAT | p.Y613_G614insTSY | RefSeq | GRCh38/hg38 |
NM_004972.4 | chr9:g.5073760_5073761insACAAGCTAT | c.1839_1840insACAAGCTAT | p.Y613_G614insTSY | RefSeq | GRCh38/hg38 |
NM_001322196.1 | chr9:g.5073760_5073761insACAAGCTAT | c.1839_1840insACAAGCTAT | p.Y613_G614insTSY | RefSeq | GRCh38/hg38 |
NM_001322196 | chr9:g.5073760_5073761insACAAGCTAT | c.1839_1840insACAAGCTAT | p.Y613_G614insTSY | RefSeq | GRCh38/hg38 |
NM_001322195.1 | chr9:g.5073760_5073761insACAAGCTAT | c.1839_1840insACAAGCTAT | p.Y613_G614insTSY | RefSeq | GRCh38/hg38 |
NM_001322195.2 | chr9:g.5073760_5073761insACAAGCTAT | c.1839_1840insACAAGCTAT | p.Y613_G614insTSY | RefSeq | GRCh38/hg38 |
NM_001322196.2 | chr9:g.5073760_5073761insACAAGCTAT | c.1839_1840insACAAGCTAT | p.Y613_G614insTSY | RefSeq | GRCh38/hg38 |
NM_001322195 | chr9:g.5073760_5073761insACAAGCTAT | c.1839_1840insACAAGCTAT | p.Y613_G614insTSY | RefSeq | GRCh38/hg38 |
NM_001322194.1 | chr9:g.5073760_5073761insACAAGCTAT | c.1839_1840insACAAGCTAT | p.Y613_G614insTSY | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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