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@genomenon.com
Gene | JAK3 |
Variant | S1124L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | JAK3 S1124L does not lie within any known functional domains of the Jak3 protein (UniProt.org). S1124L has been identified in sequencing studies (Annals of Oncology (2019) 30 (Supplement 7) vii6-vii7), 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 S1124L |
Transcript | NM_000215.4 |
gDNA | chr19:g.17826747G>A |
cDNA | c.3371C>T |
Protein | p.S1124L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000215.3 | chr19:g.17826747G>A | c.3371C>T | p.S1124L | RefSeq | GRCh38/hg38 |
XM_005259896 | chr19:g.17826876_17826877delCTinsAG | c.3370_3371delAGinsCT | p.S1124L | RefSeq | GRCh38/hg38 |
NM_000215 | chr19:g.17826747G>A | c.3371C>T | p.S1124L | RefSeq | GRCh38/hg38 |
XM_005259896.3 | chr19:g.17826876_17826877delAGinsCT | c.3370_3371delAGinsCT | p.S1124L | RefSeq | GRCh38/hg38 |
NM_000215.4 | chr19:g.17826747G>A | c.3371C>T | p.S1124L | RefSeq | GRCh38/hg38 |
XM_047438786.1 | chr19:g.17826747G>A | c.3371C>T | p.S1124L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|