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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 |
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_001322195 | 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_001322194.2 | 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_001322195.2 | chr9:g.(5073754_5073755) | c.(1834_1833) | p.N612fs | RefSeq | GRCh38/hg38 |
NM_001322196 | 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_001322196.1 | 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_004972.4 | 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_001322195.1 | chr9:g.(5073754_5073755) | c.(1834_1833) | p.N612fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
JAK2 N612fs | loss of function - predicted |