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Gene JAK2
Variant L983F
Impact List missense
Protein Effect unknown
Gene Variant Descriptions JAK2 L983F lies within the active site of the Jak2 protein (PMID: 26419724). L983F confers resistance to some Jak inhibitors, results in decreased cell proliferation in combination with JAK2 V617F in culture (PMID: 26419724), and is not transforming in culture (PMID: 39091915), but has not been fully biochemically characterized and therefore, its effect on Jak2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 L983F

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Transcript NM_004972.4
gDNA chr9:g.5090801G>T
cDNA c.2949G>T
Protein p.L983F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322195 chr9:g.5090801G>T c.2949G>T p.L983F RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5090801G>T c.2949G>T p.L983F RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5090801G>T c.2949G>T p.L983F RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5090801G>T c.2949G>T p.L983F RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5090801G>T c.2949G>T p.L983F RefSeq GRCh38/hg38
NM_004972 chr9:g.5090801G>T c.2949G>T p.L983F RefSeq GRCh38/hg38
NM_001322196 chr9:g.5090801G>T c.2949G>T p.L983F RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5090801G>T c.2949G>T p.L983F RefSeq GRCh38/hg38
NM_001322194 chr9:g.5090801G>T c.2949G>T p.L983F RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5090801G>T c.2949G>T p.L983F RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5090801G>T c.2949G>T p.L983F RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5090801G>T c.2949G>T p.L983F RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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