Gene Variant Detail

Gene JAK2
Variant S755R
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions JAK2 S755R lies within the protein kinase domain 1 of the Jak2 protein (UniProt.org). S755R demonstrates basal activity similar to wild-type Jak2 but increased Akt phosphorylation and cell growth when stimulated with high level thrombopoietin (PMID: 24398328), and therefore, is predicted to lead to a gain of Jak2 protein function.
Associated Drug Resistance

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Transcript NM_004972
gDNA chr9:g.5080362T>G
cDNA c.2265T>G
Protein p.S755R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322194 chr9:g.5080362T>G c.2265T>G p.S755R RefSeq GRCh38/hg38
NM_001322204 chr9:g.5089812_5089813delTCinsCG c.2263_2264delTCinsCG p.S755R RefSeq GRCh38/hg38
NM_001322196 chr9:g.5080362T>G c.2265T>G p.S755R RefSeq GRCh38/hg38
NM_001322195 chr9:g.5080362T>G c.2265T>G p.S755R RefSeq GRCh38/hg38
NM_004972 chr9:g.5080362T>G c.2265T>G p.S755R RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "mtor c1483f"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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Molecular Profile Protein Effect Treatment Approaches
JAK2 S755R gain of function - predicted
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References