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Gene | JAK1 |
Variant | S1043I |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | JAK1 S1043I lies within the protein kinase domain 2 of the Jak1 protein (UniProt.org). S1043I results in constitutive Jak1 activation, increased phosphorylation of Stat5 and Erk, transformation of cultured cells, and tumor formation in mouse models (PMID: 21393331). |
Associated Drug Resistance | |
Category Variants Paths |
JAK1 mutant JAK1 act mut JAK1 S1043I |
Transcript | NM_002227.4 |
gDNA | chr1:g.64837944C>A |
cDNA | c.3128G>T |
Protein | p.S1043I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001321856 | chr1:g.64837944C>A | c.3128G>T | p.S1043I | RefSeq | GRCh38/hg38 |
NM_001321855 | chr1:g.64837944C>A | c.3128G>T | p.S1043I | RefSeq | GRCh38/hg38 |
NM_002227 | chr1:g.64837944C>A | c.3128G>T | p.S1043I | RefSeq | GRCh38/hg38 |
NM_002227.3 | chr1:g.64837944C>A | c.3128G>T | p.S1043I | RefSeq | GRCh38/hg38 |
NM_001321855.2 | chr1:g.64837944C>A | c.3128G>T | p.S1043I | RefSeq | GRCh38/hg38 |
XM_047419674.1 | chr1:g.64837944C>A | c.3128G>T | p.S1043I | RefSeq | GRCh38/hg38 |
NM_001321852.2 | chr1:g.64837944C>A | c.3128G>T | p.S1043I | RefSeq | GRCh38/hg38 |
NM_001321854 | chr1:g.64837944C>A | c.3128G>T | p.S1043I | RefSeq | GRCh38/hg38 |
XM_047419675.1 | chr1:g.64837944C>A | c.3128G>T | p.S1043I | RefSeq | GRCh38/hg38 |
NM_001321853 | chr1:g.64837944C>A | c.3128G>T | p.S1043I | RefSeq | GRCh38/hg38 |
NM_001321854.1 | chr1:g.64837944C>A | c.3128G>T | p.S1043I | RefSeq | GRCh38/hg38 |
NM_001320923.1 | chr1:g.64837944C>A | c.3128G>T | p.S1043I | RefSeq | GRCh38/hg38 |
NM_001321852 | chr1:g.64837944C>A | c.3128G>T | p.S1043I | RefSeq | GRCh38/hg38 |
NM_001321852.1 | chr1:g.64837944C>A | c.3128G>T | p.S1043I | RefSeq | GRCh38/hg38 |
NM_001321853.2 | chr1:g.64837944C>A | c.3128G>T | p.S1043I | RefSeq | GRCh38/hg38 |
NM_001320923.2 | chr1:g.64837944C>A | c.3128G>T | p.S1043I | RefSeq | GRCh38/hg38 |
NM_001321853.1 | chr1:g.64837944C>A | c.3128G>T | p.S1043I | RefSeq | GRCh38/hg38 |
NM_001321855.1 | chr1:g.64837944C>A | c.3128G>T | p.S1043I | RefSeq | GRCh38/hg38 |
NM_001320923 | chr1:g.64837944C>A | c.3128G>T | p.S1043I | RefSeq | GRCh38/hg38 |
NM_001321854.2 | chr1:g.64837944C>A | c.3128G>T | p.S1043I | RefSeq | GRCh38/hg38 |
NM_001321856.2 | chr1:g.64837944C>A | c.3128G>T | p.S1043I | RefSeq | GRCh38/hg38 |
NM_001321856.1 | chr1:g.64837944C>A | c.3128G>T | p.S1043I | RefSeq | GRCh38/hg38 |
NM_002227.4 | chr1:g.64837944C>A | c.3128G>T | p.S1043I | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
JAK1 S1043I | cancer | sensitive | Ruxolitinib | Preclinical | Actionable | In a preclinical study, transformed cells harboring JAK1 S1043I were sensitive to ATP-competetive JAK inhibitors, such as Jakafi (Ruxolitinib) (PMID: 21393331). | 21393331 |