[Paper-level Aggregated] PMCID: PMC7064492

Evidence Type(s): Functional

Summary: Mutation: p.K57N | Summary: The p.K57N variant in MAP2K1 alters molecular function related to endothelial cell behavior, suggesting alterations in molecular or biochemical function and contributing to the pathophysiology of arteriovenous malformation (AVM). Its presence is enriched in endothelial cells compared to non-endothelial cells.

Gene→Variant (gene-first): MAP2K1(5604):p.K57N

Genes: MAP2K1(5604)

Variants: p.K57N

[Paper-level Aggregated] PMCID: PMC7064492

Evidence Type(s): Oncogenic

Summary: Mutation: p.K57N | Summary: The MAP2K1 mutation p.K57N is associated with the development of arteriovenous malformation (AVM) through its presence in endothelial cells, indicating its role in tumor progression. This mutation was found in tissue adjacent to the cartilage in patients with auricular AVM, further suggesting its potential role in tumor development or progression.

Gene→Variant (gene-first): MAP2K1(5604):p.K57N

Genes: MAP2K1(5604)

Variants: p.K57N

[Paragraph-level] PMCID: PMC7064492 Section: RESULTS PassageIndex: 2

Evidence Type(s): Oncogenic, Functional

Summary: Evidence Type: Oncogenic | Mutation: p.K57N | Summary: The MAP2K1 (p.K57N) mutation was found in the tissue adjacent to the cartilage in patients with auricular AVM, indicating its potential role in tumor development or progression. Evidence Type: Functional | Mutation: p.K57N | Summary: The presence of the MAP2K1 (p.K57N) mutation suggests alterations in molecular or biochemical function, as indicated by its enrichment in endothelial cells compared to non-endothelial cells.

Gene→Variant (gene-first): 5604:p.K57N

Genes: 5604

Variants: p.K57N

[Paragraph-level] PMCID: PMC7064492 Section: ABSTRACT PassageIndex: 1

Evidence Type(s): Oncogenic, Functional

Summary: Evidence Type: Oncogenic | Mutation: p.K57N | Summary: The MAP2K1 mutation p.K57N is associated with the development of arteriovenous malformation (AVM) through its presence in endothelial cells, indicating its role in tumor progression. Evidence Type: Functional | Mutation: p.K57N | Summary: The p.K57N variant in MAP2K1 alters the molecular function related to endothelial cell behavior, contributing to the pathophysiology of AVM.

Gene→Variant (gene-first): 5604:p.K57N

Genes: 5604

Variants: p.K57N

[Paper-level Aggregated] PMCID: PMC7064492

Evidence Type(s): Oncogenic, Functional

Justification: Oncogenic: The presence of MAP2K1 (p.K57N) mutations in the endothelial cells suggests a role in the development of arteriovenous malformations, indicating that this variant may contribute to oncogenic processes in the context of vascular anomalies. Functional: The study investigates the effects of the MAP2K1 (p.K57N) mutation on local tissue overgrowth, demonstrating that the mutation influences the behavior of adjacent tissues, which supports a functional role of the variant in the pathology of arteriovenous malformations.

Gene→Variant (gene-first): MAP2K1(5604):p.K57N

Genes: MAP2K1(5604)

Variants: p.K57N

[Paragraph-level] PMCID: PMC7064492 Section: RESULTS PassageIndex: 2

Evidence Type(s): Diagnostic, Oncogenic

Justification: Diagnostic: The passage discusses the presence of MAP2K1 (p.K57N) mutations in patients with auricular AVM, indicating an association with the condition and suggesting its role in defining or confirming the disease. Oncogenic: The presence of the MAP2K1 (p.K57N) mutation in the tissue adjacent to the cartilage suggests that it may contribute to tumor development or progression in the context of the auricular AVM.

Gene→Variant (gene-first): 5604:p.K57N

Genes: 5604

Variants: p.K57N

[Paragraph-level] PMCID: PMC7064492 Section: ABSTRACT PassageIndex: 1

Evidence Type(s): Oncogenic, Functional

Justification: Oncogenic: The passage discusses MAP2K1 mutations, including p.K57N, in the context of their presence in endothelial cells and their role in local tissue overgrowth associated with arteriovenous malformation (AVM), indicating a contribution to tumor development or progression. Functional: The study investigates the effects of the MAP2K1 mutation on local tissue overgrowth, suggesting that the variant alters molecular or biochemical function in the context of AVM pathology.

Gene→Variant (gene-first): 5604:p.K57N

Genes: 5604

Variants: p.K57N

[Paragraph-level] PMCID: PMC7064492 Section: ABSTRACT PassageIndex: 1

Evidence Type(s): Oncogenic, Functional

Justification: Oncogenic: The passage discusses MAP2K1 mutations, including p.K57N, in the context of their presence in endothelial cells and their role in local tissue overgrowth associated with arteriovenous malformation (AVM), indicating a contribution to tumor development or progression. Functional: The study investigates the effects of the MAP2K1 mutation on local tissue overgrowth, suggesting that the variant alters molecular or biochemical function in the context of AVM pathology.

Gene→Variant (gene-first): 5604:p.K57N

Genes: 5604

Variants: p.K57N