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Gene | JAK1 |
Variant | N973K |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | JAK1 N973K lies within protein kinase domain 2 of the Jak1 protein (UniProt.org). N973K has been identified in the scientific literature (PMID: 28410228), but has not been biochemically characterized and therefore, its effect on Jak1 protein function is unknown (PubMed, Nov 2024). |
Associated Drug Resistance | |
Category Variants Paths |
JAK1 mutant JAK1 N973K |
Transcript | NM_002227.4 |
gDNA | chr1:g.64838513G>C |
cDNA | c.2919C>G |
Protein | p.N973K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001321855.1 | chr1:g.64838513G>C | c.2919C>G | p.N973K | RefSeq | GRCh38/hg38 |
NM_001321852 | chr1:g.64838513G>C | c.2919C>G | p.N973K | RefSeq | GRCh38/hg38 |
NM_001321856 | chr1:g.64838513G>C | c.2919C>G | p.N973K | RefSeq | GRCh38/hg38 |
NM_001321852.1 | chr1:g.64838513G>C | c.2919C>G | p.N973K | RefSeq | GRCh38/hg38 |
NM_001321853.2 | chr1:g.64838513G>C | c.2919C>G | p.N973K | RefSeq | GRCh38/hg38 |
NM_001321854 | chr1:g.64838513G>C | c.2919C>G | p.N973K | RefSeq | GRCh38/hg38 |
NM_001321853.1 | chr1:g.64838513G>C | c.2919C>G | p.N973K | RefSeq | GRCh38/hg38 |
NM_001321853 | chr1:g.64838513G>C | c.2919C>G | p.N973K | RefSeq | GRCh38/hg38 |
NM_001320923.2 | chr1:g.64838513G>C | c.2919C>G | p.N973K | RefSeq | GRCh38/hg38 |
NM_001320923 | chr1:g.64838513G>C | c.2919C>G | p.N973K | RefSeq | GRCh38/hg38 |
NM_002227.4 | chr1:g.64838513G>C | c.2919C>G | p.N973K | RefSeq | GRCh38/hg38 |
XM_047419674.1 | chr1:g.64838513G>C | c.2919C>G | p.N973K | RefSeq | GRCh38/hg38 |
NM_001321855.2 | chr1:g.64838513G>C | c.2919C>G | p.N973K | RefSeq | GRCh38/hg38 |
NM_001320923.1 | chr1:g.64838513G>C | c.2919C>G | p.N973K | RefSeq | GRCh38/hg38 |
NM_001321855 | chr1:g.64838513G>C | c.2919C>G | p.N973K | RefSeq | GRCh38/hg38 |
NM_001321854.1 | chr1:g.64838513G>C | c.2919C>G | p.N973K | RefSeq | GRCh38/hg38 |
NM_002227 | chr1:g.64838513G>C | c.2919C>G | p.N973K | RefSeq | GRCh38/hg38 |
NM_001321856.1 | chr1:g.64838513G>C | c.2919C>G | p.N973K | RefSeq | GRCh38/hg38 |
NM_001321854.2 | chr1:g.64838513G>C | c.2919C>G | p.N973K | RefSeq | GRCh38/hg38 |
NM_001321852.2 | chr1:g.64838513G>C | c.2919C>G | p.N973K | RefSeq | GRCh38/hg38 |
XM_047419675.1 | chr1:g.64838513G>C | c.2919C>G | p.N973K | RefSeq | GRCh38/hg38 |
NM_002227.3 | chr1:g.64838513G>C | c.2919C>G | p.N973K | RefSeq | GRCh38/hg38 |
NM_001321856.2 | chr1:g.64838513G>C | c.2919C>G | p.N973K | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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