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Gene JAK2
Variant Y613fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions JAK2 Y613fs results in a change in the amino acid sequence of the Jak2 protein beginning at aa 613 of 1132, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most of protein kinase domain 1 and all of protein kinase domain 2 (UniProt.org), Y613fs is predicted to lead to a loss of Jak2 protein function.
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 inact mut JAK2 Y613fs

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Transcript NM_004972.4
gDNA chr9:g.(5073757_5073758)
cDNA c.(1837_1836)
Protein p.Y613fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004972.3 chr9:g.(5073757_5073758) c.(1837_1836) p.Y613fs RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.(5073757_5073758) c.(1837_1836) p.Y613fs RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.(5073757_5073758) c.(1837_1836) p.Y613fs RefSeq GRCh38/hg38
NM_001322196 chr9:g.(5073757_5073758) c.(1837_1836) p.Y613fs RefSeq GRCh38/hg38
NM_004972 chr9:g.(5073757_5073758) c.(1837_1836) p.Y613fs RefSeq GRCh38/hg38
NM_001322194 chr9:g.(5073757_5073758) c.(1837_1836) p.Y613fs RefSeq GRCh38/hg38
NM_001322195 chr9:g.(5073757_5073758) c.(1837_1836) p.Y613fs RefSeq GRCh38/hg38
NM_004972.4 chr9:g.(5073757_5073758) c.(1837_1836) p.Y613fs RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.(5073757_5073758) c.(1837_1836) p.Y613fs RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.(5073757_5073758) c.(1837_1836) p.Y613fs RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.(5073757_5073758) c.(1837_1836) p.Y613fs RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.(5073757_5073758) c.(1837_1836) p.Y613fs RefSeq GRCh38/hg38

Filtering

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries