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 E1080*
Impact List nonsense
Protein Effect unknown
Gene Variant Descriptions JAK2 E1080* results in a premature truncation of the Jak2 protein at amino acid 1080 of 1132 (UniProt.org). E1080* has been identified in sequencing studies (PMID: 28481359), 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 E1080*

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.5126393G>T
cDNA c.3238G>T
Protein p.E1080*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322196 chr9:g.5126393G>T c.3238G>T p.E1080* RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5126393G>T c.3238G>T p.E1080* RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5126393G>T c.3238G>T p.E1080* RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5126393G>T c.3238G>T p.E1080* RefSeq GRCh38/hg38
NM_001322194 chr9:g.5126393G>T c.3238G>T p.E1080* RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5126393G>T c.3238G>T p.E1080* RefSeq GRCh38/hg38
NM_001322195 chr9:g.5126393G>T c.3238G>T p.E1080* RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5126393G>T c.3238G>T p.E1080* RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5126393G>T c.3238G>T p.E1080* RefSeq GRCh38/hg38
NM_004972 chr9:g.5126393G>T c.3238G>T p.E1080* RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5126393G>T c.3238G>T p.E1080* RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5126393G>T c.3238G>T p.E1080* 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