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Gene JAK3
Variant R223H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions JAK3 R223H lies within the FERM domain of the Jak3 protein (UniProt.org). R223H has been identified in sequencing studies (PMID: 26444865), but has not been biochemically characterized and therefore, its effect on Jak3 protein function is unknown (PubMed, Jun 2024).
Associated Drug Resistance
Category Variants Paths

JAK3 mutant JAK3 R223H

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Transcript NM_000215.4
gDNA chr19:g.17842509C>T
cDNA c.668G>A
Protein p.R223H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011527990.1 chr19:g.17843053_17843054delGGinsAT c.668_669delGGinsAT p.R223H RefSeq GRCh38/hg38
XM_011527991.2 chr19:g.17843053_17843054delGGinsAT c.668_669delGGinsAT p.R223H RefSeq GRCh38/hg38
NM_000215.3 chr19:g.17842509C>T c.668G>A p.R223H RefSeq GRCh38/hg38
NM_000215 chr19:g.17842509C>T c.668G>A p.R223H RefSeq GRCh38/hg38
XM_005259896.3 chr19:g.17843053_17843054delGGinsAT c.668_669delGGinsAT p.R223H RefSeq GRCh38/hg38
XM_005259896 chr19:g.17843053_17843054delCCinsAT c.668_669delGGinsAT p.R223H RefSeq GRCh38/hg38
XM_011527990 chr19:g.17843053_17843054delCCinsAT c.668_669delGGinsAT p.R223H RefSeq GRCh38/hg38
XM_047438786.1 chr19:g.17842509C>T c.668G>A p.R223H RefSeq GRCh38/hg38
NM_000215.4 chr19:g.17842509C>T c.668G>A p.R223H RefSeq GRCh38/hg38
XM_011527991 chr19:g.17843053_17843054delCCinsAT c.668_669delGGinsAT p.R223H RefSeq GRCh38/hg38
XM_011527991.3 chr19:g.17842509C>T c.668G>A p.R223H RefSeq GRCh38/hg38

Filtering

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