Missing content? – Request curation!
Request curation for specific Genes, variants, or PubMed publications.
Have questions, comments or suggestions? - Let us know!
Email us at : ckbsupport@jax.org
Gene | JAK3 |
Variant | R175Q |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | JAK3 R175Q lies within the FERM domain of the Jak3 protein (UniProt.org). R175Q has not been characterized in the scientific literature and therefore, its effect on Jak3 protein function is unknown (PubMed, Apr 2022). |
Associated Drug Resistance |
Transcript | NM_000215.3 |
gDNA | chr19:g.17843069C>T |
cDNA | c.524G>A |
Protein | p.R175Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000215.3 | chr19:g.17843069C>T | c.524G>A | p.R175Q | 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 R175Q | unknown |