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Gene | JAK3 |
Variant | P151R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | JAK3 P151R lies within the FERM domain of the Jak3 protein (UniProt.org). P151R has been identified in the scientific literature (PMID: 29681454, PMID: 27151993, PMID: 32639993), 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 P151R |
Transcript | NM_000215.4 |
gDNA | chr19:g.17843141G>C |
cDNA | c.452C>G |
Protein | p.P151R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000215.4 | chr19:g.17843141G>C | c.452C>G | p.P151R | RefSeq | GRCh38/hg38 |
NM_000215 | chr19:g.17843141G>C | c.452C>G | p.P151R | RefSeq | GRCh38/hg38 |
XM_011527991.3 | chr19:g.17843141G>C | c.452C>G | p.P151R | RefSeq | GRCh38/hg38 |
XM_047438786.1 | chr19:g.17843141G>C | c.452C>G | p.P151R | RefSeq | GRCh38/hg38 |
NM_000215.3 | chr19:g.17843141G>C | c.452C>G | p.P151R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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