Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

Gene JAK2
Variant N533I
Impact List missense
Protein Effect unknown
Gene Variant Descriptions JAK2 N533I lies within a linker region of the Jak2 protein (PMID: 29685781). N533I has been identified in the scientific literature (PMID: 37834019), 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 N533I

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.

Transcript NM_004972.4
gDNA chr9:g.5070009A>T
cDNA c.1598A>T
Protein p.N533I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322195 chr9:g.5070009A>T c.1598A>T p.N533I RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5070009A>T c.1598A>T p.N533I RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5070009A>T c.1598A>T p.N533I RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5070009A>T c.1598A>T p.N533I RefSeq GRCh38/hg38
NM_001322196 chr9:g.5070009A>T c.1598A>T p.N533I RefSeq GRCh38/hg38
NM_001322194 chr9:g.5070009A>T c.1598A>T p.N533I RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5070009A>T c.1598A>T p.N533I RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5070009A>T c.1598A>T p.N533I RefSeq GRCh38/hg38
NM_004972 chr9:g.5070009A>T c.1598A>T p.N533I RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5070009A>T c.1598A>T p.N533I RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5070009A>T c.1598A>T p.N533I RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5070009A>T c.1598A>T p.N533I 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 N533I unknown