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Gene JAK2
Variant C480F
Impact List missense
Protein Effect unknown
Gene Variant Descriptions JAK2 C480F lies within the atypical SH2 domain of the Jak2 protein (UniProt.org). C480F has been identified in the scientific literature (PMID: 30811597), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, May 2024).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 C480F

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Transcript NM_004972.4
gDNA chr9:g.5069134G>T
cDNA c.1439G>T
Protein p.C480F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322194.1 chr9:g.5069134G>T c.1439G>T p.C480F RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5069134G>T c.1439G>T p.C480F RefSeq GRCh38/hg38
NM_001322196 chr9:g.5069134G>T c.1439G>T p.C480F RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5069134G>T c.1439G>T p.C480F RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5069134G>T c.1439G>T p.C480F RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5069134G>T c.1439G>T p.C480F RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5069134G>T c.1439G>T p.C480F RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5069134G>T c.1439G>T p.C480F RefSeq GRCh38/hg38
NM_004972 chr9:g.5069134G>T c.1439G>T p.C480F RefSeq GRCh38/hg38
NM_001322195 chr9:g.5069134G>T c.1439G>T p.C480F RefSeq GRCh38/hg38
NM_001322194 chr9:g.5069134G>T c.1439G>T p.C480F RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5069134G>T c.1439G>T p.C480F 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

  • 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
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
JAK2 C480F unknown