Gene Variant Detail

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Gene JAK2
Variant L611S
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK2 L611S lies within the protein kinase domain 1 of the Jak2 protein (UniProt.org). L611S confers a gain of function to the Jak2 protein as demonstrated by increased kinase activity, activation of Stat5, Erk, and Akt, and is transforming in cell culture (PMID: 19638629).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 L611S

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Transcript NM_004972.4
gDNA chr9:g.5073753T>C
cDNA c.1832T>C
Protein p.L611S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004972 chr9:g.5073753T>C c.1832T>C p.L611S RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5073753T>C c.1832T>C p.L611S RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5073753T>C c.1832T>C p.L611S RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5073753T>C c.1832T>C p.L611S RefSeq GRCh38/hg38
NM_001322196 chr9:g.5073753T>C c.1832T>C p.L611S RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5073753T>C c.1832T>C p.L611S RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5073753T>C c.1832T>C p.L611S RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5073753T>C c.1832T>C p.L611S RefSeq GRCh38/hg38
NM_001322194 chr9:g.5073753T>C c.1832T>C p.L611S RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5073753T>C c.1832T>C p.L611S RefSeq GRCh38/hg38
NM_001322195 chr9:g.5073753T>C c.1832T>C p.L611S RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5073753T>C c.1832T>C p.L611S RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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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Molecular Profile Protein Effect Treatment Approaches
JAK2 L611S gain of function JAK Inhibitor (Pan) JAK Inhibitor (Pan) - ATP competitive JAK2 Inhibitor JAK2 Inhibitor - ATP competitive