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@jax.org

Gene JAK1
Variant F958V
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK1 F958V lies within the protein kinase domain 2 of the Jak1 protein (UniProt.org). F958V results in constitutive Jak1 activation, increased phosphorylation of Stat5 and Erk, transformation of cultured cells, and tumor formation in mouse models, and confers resistance to Jak inhibitors in culture (PMID: 21393331).
Associated Drug Resistance Y

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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_002227.3
gDNA chr1:g.64838560A>C
cDNA c.2872T>G
Protein p.F958V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001321854 chr1:g.64838560A>C c.2872T>G p.F958V RefSeq GRCh38/hg38
NM_001321852.1 chr1:g.64838560A>C c.2872T>G p.F958V RefSeq GRCh38/hg38
NM_001320923 chr1:g.64838560A>C c.2872T>G p.F958V RefSeq GRCh38/hg38
NM_001321855 chr1:g.64838560A>C c.2872T>G p.F958V RefSeq GRCh38/hg38
NM_001321856 chr1:g.64838560A>C c.2872T>G p.F958V RefSeq GRCh38/hg38
NM_001321852 chr1:g.64838560A>C c.2872T>G p.F958V RefSeq GRCh38/hg38
NM_001320923.1 chr1:g.64838560A>C c.2872T>G p.F958V RefSeq GRCh38/hg38
NM_001321855.1 chr1:g.64838560A>C c.2872T>G p.F958V RefSeq GRCh38/hg38
NM_002227.3 chr1:g.64838560A>C c.2872T>G p.F958V RefSeq GRCh38/hg38
NM_001321853.1 chr1:g.64838560A>C c.2872T>G p.F958V RefSeq GRCh38/hg38
NM_002227 chr1:g.64838560A>C c.2872T>G p.F958V RefSeq GRCh38/hg38
NM_001321853 chr1:g.64838560A>C c.2872T>G p.F958V RefSeq GRCh38/hg38
NM_001321854.1 chr1:g.64838560A>C c.2872T>G p.F958V RefSeq GRCh38/hg38
NM_001321856.1 chr1:g.64838560A>C c.2872T>G p.F958V RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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
JAK1 F958V cancer resistant Ruxolitinib Preclinical Actionable In a preclinical study, cells harboring JAK1 F958V displayed resistance to ATP-competetive JAK inhibitors, such as Jakafi (Ruxolitinib) (PMID: 21393331). 21393331
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
JAK1 mutant B-cell acute lymphoblastic leukemia not applicable N/A Guideline Prognostic JAK1 mutations are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org). detail...
JAK1 mutant childhood B-cell acute lymphoblastic leukemia not applicable N/A Guideline Prognostic JAK1 mutations are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org). detail...
Molecular Profile Protein Effect Treatment Approaches
JAK1 F958V gain of function JAK Inhibitor (Pan) JAK1 Inhibitor