Gene Variant Detail

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Gene JAK2
Variant I682D
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions JAK2 I682D lies within protein kinase domain 1 of the Jak2 protein (UniProt.org). I682D demonstrates increased enzyme activity and decreased structural stability in an in vitro assay (PMID: 25940527), and therefore, is predicted to lead to a gain of Jak2 protein function.
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 I682D

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Transcript NM_004972.4
gDNA chr9:g.5078357_5078358delATinsGA
cDNA c.2044_2045delATinsGA
Protein p.I682D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322194.2 chr9:g.5078357_5078358delATinsGA c.2044_2045delATinsGA p.I682D RefSeq GRCh38/hg38
NM_001322194 chr9:g.5078357_5078358delATinsGA c.2044_2045delATinsGA p.I682D RefSeq GRCh38/hg38
NM_004972 chr9:g.5078357_5078358delATinsGA c.2044_2045delATinsGA p.I682D RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5078357_5078358delATinsGA c.2044_2045delATinsGA p.I682D RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5078357_5078358delATinsGA c.2044_2045delATinsGA p.I682D RefSeq GRCh38/hg38
NM_001322195 chr9:g.5078357_5078358delATinsGA c.2044_2045delATinsGA p.I682D RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5078357_5078358delATinsGA c.2044_2045delATinsGA p.I682D RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5078357_5078358delATinsGA c.2044_2045delATinsGA p.I682D RefSeq GRCh38/hg38
NM_001322196 chr9:g.5078357_5078358delATinsGA c.2044_2045delATinsGA p.I682D RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5078357_5078358delATinsGA c.2044_2045delATinsGA p.I682D RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5078357_5078358delATinsGA c.2044_2045delATinsGA p.I682D RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5078357_5078358delATinsGA c.2044_2045delATinsGA p.I682D 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 )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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  • Click on any column header arrows to sort by that column
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Molecular Profile Protein Effect Treatment Approaches
JAK2 I682D gain of function - predicted JAK Inhibitor (Pan) JAK Inhibitor (Pan) - ATP competitive JAK2 Inhibitor JAK2 Inhibitor - ATP competitive