[Paper-level Aggregated] PMCID: PMC7182441

Evidence Type(s): Functional

Summary: Mutation: S6 | Summary: The variant S6 is involved in the molecular function related to mTOR signaling and autophagy in response to amino acid starvation, as indicated by the effects of alpha-MT on the phosphorylation status of S6 kinase in LS174T cells.

Gene→Variant (gene-first): RPS6KB1(6198):S6

Genes: RPS6KB1(6198)

Variants: S6

[Paragraph-level] PMCID: PMC7182441 Section: RESULTS PassageIndex: 5

Evidence Type(s): Functional

Summary: Evidence Type: Functional | Mutation: S6 | Summary: The passage discusses the effects of alpha-MT on the phosphorylation status of S6 kinase in LS174T cells, indicating that the variant S6 is involved in the molecular function related to mTOR signaling and autophagy in response to amino acid starvation.

Gene→Variant (gene-first): 6198:S6

Genes: 6198

Variants: S6

[Paper-level Aggregated] PMCID: PMC7182441

Evidence Type(s): Functional, Oncogenic

Justification: Functional: The text describes the use of alpha-MT to block SLC6A14 function in colon cancer cells, demonstrating that this blockade leads to amino acid starvation and subsequent changes in marker expression, indicating a functional role of SLC6A14 in amino acid nutrition. Oncogenic: The study evaluates the effects of SLC6A14 blockade in a colon cancer cell line (LS174T), suggesting that SLC6A14 may play a role in the oncogenic process by influencing amino acid availability and mTOR signaling in cancer cells.

Gene→Variant (gene-first): RPS6KB1(6198):S6

Genes: RPS6KB1(6198)

Variants: S6

[Paragraph-level] PMCID: PMC7182441 Section: RESULTS PassageIndex: 5

Evidence Type(s): Functional, Oncogenic

Justification: Functional: The passage discusses how the variant SLC6A14 affects amino acid transport and starvation, indicating that the blockade of its function alters molecular processes such as the expression of specific markers and the phosphorylation status of mTOR and S6 kinase. Oncogenic: The variant SLC6A14 is implicated in tumor behavior, as the study evaluates its role in colon cancer cell lines, suggesting that it contributes to tumor development or progression through its function in amino acid transport and mTOR signaling.

Gene→Variant (gene-first): 6198:S6

Genes: 6198

Variants: S6