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Gene | JAK3 |
Variant | C162Y |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | JAK3 C162Y lies within the FERM domain of the Jak3 protein (UniProt.org). C162Y has not been characterized in the scientific literature and therefore, its effect on Jak3 protein function is unknown (PubMed, May 2022). |
Associated Drug Resistance |
Transcript | NM_000215.3 |
gDNA | chr19:g.17843108C>T |
cDNA | c.485G>A |
Protein | p.C162Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000215.3 | chr19:g.17843108C>T | c.485G>A | p.C162Y | RefSeq | GRCh38/hg38 |
NM_000215 | chr19:g.17843108C>T | c.485G>A | p.C162Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
JAK3 C162Y | unknown |