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Gene | JAK3 |
Variant | Y1023H |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | JAK3 Y1023H lies within protein kinase domain 2 of the Jak3 protein (UniProt.org). Y1023H has been identified in sequencing studies (PMID: 26415585, PMID: 25801821), 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 Y1023H |
Transcript | NM_000215.4 |
gDNA | chr19:g.17830532A>G |
cDNA | c.3067T>C |
Protein | p.Y1023H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000215.3 | chr19:g.17830532A>G | c.3067T>C | p.Y1023H | RefSeq | GRCh38/hg38 |
XM_047438786.1 | chr19:g.17830532A>G | c.3067T>C | p.Y1023H | RefSeq | GRCh38/hg38 |
XM_005259896.3 | chr19:g.17831268A>G | c.3067T>C | p.Y1023H | RefSeq | GRCh38/hg38 |
NM_000215 | chr19:g.17830532A>G | c.3067T>C | p.Y1023H | RefSeq | GRCh38/hg38 |
XM_005259896 | chr19:g.17831268A>G | c.3067T>C | p.Y1023H | RefSeq | GRCh38/hg38 |
NM_000215.4 | chr19:g.17830532A>G | c.3067T>C | p.Y1023H | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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