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 R402H
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions JAK3 R402H lies within the SH2 domain of the Jak3 protein (UniProt.org). R402H demonstrates altered subcellular localization and failure to properly localize the common gamma chain to the cell membrane in culture (PMID: 15143194), and therefore, is predicted to lead to a loss of Jak3 protein function.
Associated Drug Resistance
Category Variants Paths

JAK3 mutant JAK3 inact mut JAK3 R402H

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.17840279C>T
cDNA c.1205G>A
Protein p.R402H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000215.3 chr19:g.17840279C>T c.1205G>A p.R402H RefSeq GRCh38/hg38
XM_011527991.3 chr19:g.17840279C>T c.1205G>A p.R402H RefSeq GRCh38/hg38
NM_000215 chr19:g.17840279C>T c.1205G>A p.R402H RefSeq GRCh38/hg38
NM_000215.4 chr19:g.17840279C>T c.1205G>A p.R402H RefSeq GRCh38/hg38
XM_047438786.1 chr19:g.17840279C>T c.1205G>A p.R402H 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
JAK3 R402H loss of function - predicted