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Gene JAK3
Variant Q39fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions JAK3 Q39fs results in a change in the amino acid sequence of the Jak3 protein beginning at aa 39 of 1124, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), Q39fs is predicted to lead to a loss of Jak3 protein function.
Associated Drug Resistance
Category Variants Paths

JAK3 mutant JAK3 inact mut JAK3 Q39fs

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Transcript NM_000215.4
gDNA chr19:g.(17844303_17844304)
cDNA c.(115_114)
Protein p.Q39fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000215 chr19:g.17844302delT c.116delA p.Q39fs*108 RefSeq GRCh38/hg38
NM_000215.3 chr19:g.(17844303_17844304) c.(115_114) p.Q39fs RefSeq GRCh38/hg38
XM_011527991.3 chr19:g.(17844303_17844304) c.(115_114) p.Q39fs RefSeq GRCh38/hg38
XM_047438786.1 chr19:g.(17844303_17844304) c.(115_114) p.Q39fs RefSeq GRCh38/hg38
NM_000215.4 chr19:g.(17844303_17844304) c.(115_114) p.Q39fs RefSeq GRCh38/hg38

Filtering

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  • 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries