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Gene JAK2
Variant L545S
Impact List missense
Protein Effect unknown
Gene Variant Descriptions JAK2 L545S lies within protein kinase domain 1 of the Jak2 protein (UniProt.org). L545S has been identified in sequencing studies (PMID: 19491085), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2024).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 exon12 JAK2 L545S

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Transcript NM_004972.4
gDNA chr9:g.5070045T>C
cDNA c.1634T>C
Protein p.L545S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004972 chr9:g.5070045T>C c.1634T>C p.L545S RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5070045T>C c.1634T>C p.L545S RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5070045T>C c.1634T>C p.L545S RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5070045T>C c.1634T>C p.L545S RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5070045T>C c.1634T>C p.L545S RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5070045T>C c.1634T>C p.L545S RefSeq GRCh38/hg38
NM_001322195 chr9:g.5070045T>C c.1634T>C p.L545S RefSeq GRCh38/hg38
NM_001322196 chr9:g.5070045T>C c.1634T>C p.L545S RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5070045T>C c.1634T>C p.L545S RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5070045T>C c.1634T>C p.L545S RefSeq GRCh38/hg38
NM_001322194 chr9:g.5070045T>C c.1634T>C p.L545S RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5070045T>C c.1634T>C p.L545S 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 )
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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 Protein Effect Treatment Approaches
JAK2 L545S unknown