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Gene JAK2
Variant N612fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions JAK2 N612fs results in a change in the amino acid sequence of the Jak2 protein beginning at aa 612 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), N612fs is predicted to lead to a loss of Jak2 protein function.
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 inact mut JAK2 N612fs

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Transcript NM_004972.4
gDNA chr9:g.(5073754_5073755)
cDNA c.(1834_1833)
Protein p.N612fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322196 chr9:g.(5073754_5073755) c.(1834_1833) p.N612fs RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.(5073754_5073755) c.(1834_1833) p.N612fs RefSeq GRCh38/hg38
NM_004972.3 chr9:g.(5073754_5073755) c.(1834_1833) p.N612fs RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.(5073754_5073755) c.(1834_1833) p.N612fs RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.(5073754_5073755) c.(1834_1833) p.N612fs RefSeq GRCh38/hg38
NM_001322194 chr9:g.(5073754_5073755) c.(1834_1833) p.N612fs RefSeq GRCh38/hg38
NM_001322195 chr9:g.(5073754_5073755) c.(1834_1833) p.N612fs RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.(5073754_5073755) c.(1834_1833) p.N612fs RefSeq GRCh38/hg38
NM_004972 chr9:g.(5073754_5073755) c.(1834_1833) p.N612fs RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.(5073754_5073755) c.(1834_1833) p.N612fs RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.(5073754_5073755) c.(1834_1833) p.N612fs RefSeq GRCh38/hg38
NM_004972.4 chr9:g.(5073754_5073755) c.(1834_1833) p.N612fs RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References