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Gene | JAK3 |
Variant | V715A |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | JAK3 V715A lies within protein kinase domain 1 of the Jak3 protein (UniProt.org). V715A has not been characterized and therefore, its effect on Jak3 protein function is unknown (PubMed, Jun 2024). |
Associated Drug Resistance | |
Category Variants Paths |
JAK3 mutant JAK3 V715A |
Transcript | NM_000215.4 |
gDNA | chr19:g.17834907A>G |
cDNA | c.2144T>C |
Protein | p.V715A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000215 | chr19:g.17834907A>G | c.2144T>C | p.V715A | RefSeq | GRCh38/hg38 |
XM_047438786.1 | chr19:g.17834907A>G | c.2144T>C | p.V715A | RefSeq | GRCh38/hg38 |
NM_000215.4 | chr19:g.17834907A>G | c.2144T>C | p.V715A | RefSeq | GRCh38/hg38 |
NM_000215.3 | chr19:g.17834907A>G | c.2144T>C | p.V715A | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
JAK3 V715A | unknown |