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 M929I
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions JAK2 M929I is a gatekeeper mutation that lies within protein kinase domain 2 of the Jak2 protein (UniProt.org). M929I demonstrates increased Jak2 and Stat5 phosphorylation (PMID: 22916261), and has been described as a secondary drug resistance mutation in the context of other Jak2 activating mutations (PMID: 22916261, PMID: 23823659, PMID: 21926964), and therefore, is predicted to lead to a gain of Jak2 protein function.
Associated Drug Resistance Y
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 M929I

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.5090471G>C
cDNA c.2787G>C
Protein p.M929I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004972.4 chr9:g.5090471G>C c.2787G>C p.M929I RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5090471G>C c.2787G>C p.M929I RefSeq GRCh38/hg38
NM_004972 chr9:g.5090471G>C c.2787G>C p.M929I RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5090471G>C c.2787G>C p.M929I RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5090471G>C c.2787G>C p.M929I RefSeq GRCh38/hg38
NM_001322195 chr9:g.5090471G>C c.2787G>C p.M929I RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5090471G>C c.2787G>C p.M929I RefSeq GRCh38/hg38
NM_001322194 chr9:g.5090471G>C c.2787G>C p.M929I RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5090471G>C c.2787G>C p.M929I RefSeq GRCh38/hg38
NM_001322196 chr9:g.5090471G>C c.2787G>C p.M929I RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5090471G>C c.2787G>C p.M929I RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5090471G>C c.2787G>C p.M929I 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References