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 JAK3
Variant R272H
Impact List missense
Protein Effect no effect
Gene Variant Descriptions JAK3 R272H lies within the FERM domain of the Jak3 protein (UniProt.org). R272H demonstrates phosphorylation of Jak3 similar to wild-type protein and is not transforming in cell culture (PMID: 25193870).
Associated Drug Resistance
Category Variants Paths

JAK3 mutant JAK3 R272H

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_000215.4
gDNA chr19:g.17842362C>T
cDNA c.815G>A
Protein p.R272H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011527991.3 chr19:g.17842362C>T c.815G>A p.R272H RefSeq GRCh38/hg38
NM_000215.3 chr19:g.17842362C>T c.815G>A p.R272H RefSeq GRCh38/hg38
NM_000215.4 chr19:g.17842362C>T c.815G>A p.R272H RefSeq GRCh38/hg38
NM_000215 chr19:g.17842362C>T c.815G>A p.R272H RefSeq GRCh38/hg38
XM_047438786.1 chr19:g.17842362C>T c.815G>A p.R272H 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