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Gene JAK3
Variant S1124L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions JAK3 S1124L does not lie within any known functional domains of the Jak3 protein (UniProt.org). S1124L has been identified in sequencing studies (Annals of Oncology (2019) 30 (Supplement 7) vii6-vii7), but has not been biochemically characterized and therefore, its effect on Jak3 protein function is unknown (PubMed, Mar 2024).
Associated Drug Resistance
Category Variants Paths

JAK3 mutant JAK3 S1124L

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Transcript NM_000215.4
gDNA chr19:g.17826747G>A
cDNA c.3371C>T
Protein p.S1124L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000215 chr19:g.17826747G>A c.3371C>T p.S1124L RefSeq GRCh38/hg38
XM_005259896.3 chr19:g.17826876_17826877delAGinsCT c.3370_3371delAGinsCT p.S1124L RefSeq GRCh38/hg38
XM_047438786.1 chr19:g.17826747G>A c.3371C>T p.S1124L RefSeq GRCh38/hg38
XM_005259896 chr19:g.17826876_17826877delCTinsAG c.3370_3371delAGinsCT p.S1124L RefSeq GRCh38/hg38
NM_000215.3 chr19:g.17826747G>A c.3371C>T p.S1124L RefSeq GRCh38/hg38
NM_000215.4 chr19:g.17826747G>A c.3371C>T p.S1124L 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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References