[Paper-level Aggregated] PMCID: PMC2830973

Evidence Type(s): Functional

Summary: Mutation: V674A | Summary: The JAK3 V674A variant alters the molecular function of JAK3, leading to persistent activation and IL-3-independent growth in BaF3 cells, and is identified as an activating allele that can transform pro-B cells to IL-3-independent growth, indicating its role in tumor development.

Gene→Variant (gene-first): JAK3(3718):V674A

Genes: JAK3(3718)

Variants: V674A

[Paper-level Aggregated] PMCID: PMC2830973

Evidence Type(s): Oncogenic

Summary: Mutation: V674A | Summary: The JAK3 V674A mutation is identified as an activating allele that can transform pro-B cells to IL-3-independent growth, indicating its role in tumor development.

Gene→Variant (gene-first): JAK3(3718):V674A

Genes: JAK3(3718)

Variants: V674A

[Paragraph-level] PMCID: PMC2830973 Section: RESULTS PassageIndex: 12

Evidence Type(s): None

Summary: Not enough information in this passage.

Gene→Variant (gene-first): 207:serine/threonine

Genes: 207

Variants: serine/threonine

[Paragraph-level] PMCID: PMC2830973 Section: RESULTS PassageIndex: 6

Evidence Type(s): Oncogenic, Functional

Summary: Evidence Type: Oncogenic | Mutation: V674A | Summary: The JAK3 V674A mutation is identified as an activating allele that can transform pro-B cells to IL-3-independent growth, indicating its role in tumor development. Evidence Type: Functional | Mutation: V674A | Summary: The JAK3 V674A variant alters the molecular function of JAK3, leading to persistent activation and IL-3-independent growth in BaF3 cells.

Gene→Variant (gene-first): 3718:V674A

Genes: 3718

Variants: V674A

[Paper-level Aggregated] PMCID: PMC2830973

Evidence Type(s): Oncogenic, Functional

Justification: Oncogenic: The variant JAK3V674A is described as an activating allele that transforms BaF3 cells to IL-3-independent growth, indicating its role in promoting oncogenic processes. Functional: The study demonstrates that JAK3V674A leads to increased viability of BaF3 cells in the absence of IL-3, and that inhibition of JAK3 activity by NSC114792 decreases cell viability, showing a functional consequence of the variant.

Gene→Variant (gene-first): JAK3(3718):V674A AKT1(207):serine/threonine

Genes: JAK3(3718) AKT1(207)

Variants: V674A serine/threonine

[Paragraph-level] PMCID: PMC2830973 Section: RESULTS PassageIndex: 12

Evidence Type(s): Functional

Justification: Functional: The passage discusses the effects of the compound NSC114792 on the phosphorylation state of serine/threonine kinases, indicating that it alters molecular function related to these kinases.

Gene→Variant (gene-first): 207:serine/threonine

Genes: 207

Variants: serine/threonine

[Paragraph-level] PMCID: PMC2830973 Section: RESULTS PassageIndex: 6

Evidence Type(s): Oncogenic, Predictive

Justification: Oncogenic: The variant JAK3V674A is described as an activating allele that can transform a lymphoid pro-B-cell line, indicating its role in tumor development or progression. Predictive: The passage discusses how treatment with the compound NSC114792 inhibits JAK3 activity and decreases the viability of BaF3-JAK3V674A cells, suggesting a correlation with response to therapy.

Gene→Variant (gene-first): 3718:V674A

Genes: 3718

Variants: V674A