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Gene JAK3
Variant L857H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions JAK3 L857H lies within protein kinase domain 2 of the Jak3 protein (UniProt.org). L857H has not been characterized in the scientific literature and therefore, its effect on Jak3 protein function is unknown (PubMed, Jan 2024).
Associated Drug Resistance
Category Variants Paths

JAK3 mutant JAK3 L857H

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Transcript NM_000215.4
gDNA chr19:g.17832628_17832629delTGinsAT
cDNA c.2570_2571delTGinsAT
Protein p.L857H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047438786.1 chr19:g.17832628_17832629delTGinsAT c.2570_2571delTGinsAT p.L857H RefSeq GRCh38/hg38
NM_000215.4 chr19:g.17832628_17832629delTGinsAT c.2570_2571delTGinsAT p.L857H RefSeq GRCh38/hg38
NM_000215 chr19:g.17832628_17832629delCAinsAT c.2570_2571delTGinsAT p.L857H RefSeq GRCh38/hg38
NM_000215.3 chr19:g.17832628_17832629delTGinsAT c.2570_2571delTGinsAT p.L857H 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