NRAS, Q61H (c.183A>C)

Expand Collapse No disease selected  - General Description Disease Accordion Expanded

Expand Collapse NRAS  - General Description NRAS is a gene that provides the code for making NRAS, a GTPase that converts GTP to GDP. This protein is part of the MAP kinase signaling cascade that relays chemical signals from the outside of the cell to the cell's nucleus, and is primarily involved in controlling cell division. When NRAS is attached (bound) to GDP, it is in its “off” position and can't send signals to the nucleus. But when a GTP molecule arrives and binds to NRAS, NRAS is activated and sends its signal, and then it converts the GTP into GDP and returns to the "off" position. HRAS and KRAS are other GTPases that are similar to NRAS. When mutated, however, NRAS can act as an oncogene, causing normal cells to become cancerous. The mutations can shift the NRAS protein into the "on" position all the time. These NRAS mutations are said to be somatic, because instead of coming from a parent and being present in every cell (hereditary), they are acquired during the course of a person's life and are found only in cells that become cancerous. Source: Genetics Home ReferenceNRAS (neuroblastoma RAS viral oncogene homolog) is a member of the closely related RAS gene family that also includes KRAS and HRAS. These RAS members are small GTPases that mediate extracellular signals to the downstream effectors RAF, PI3K and RALGDS. RAS members are involved in regulating diverse cellular processes including survival, proliferation and differentiation. While activating mutations in the RAS genes lead to sustained GTPase activation that contributes to oncogenesis, each oncogene exerts clear differences. Mutational hotspots in NRAS reside primarily in amino acid residues 12, 13 or 61 and function to suppress apoptosis. Source: Genetics Home Referencehttp://targetedcancercare.massgeneral.org/My-Trial-Guide/Genes/NRAS.aspx Gene Accordion Expanded

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NRAS is a gene that provides the code for making NRAS, a GTPase that converts GTP to GDP. This protein is part of the MAP kinase signaling cascade that relays chemical signals from the outside of the cell to the cell's nucleus, and is primarily involved in controlling cell division. When NRAS is attached (bound) to GDP, it is in its “off” position and can't send signals to the nucleus. But when a GTP molecule arrives and binds to NRAS, NRAS is activated and sends its signal, and then it converts the GTP into GDP and returns to the "off" position. HRAS and KRAS are other GTPases that are similar to NRAS.

When mutated, however, NRAS can act as an oncogene, causing normal cells to become cancerous. The mutations can shift the NRAS protein into the "on" position all the time. These NRAS mutations are said to be somatic, because instead of coming from a parent and being present in every cell (hereditary), they are acquired during the course of a person's life and are found only in cells that become cancerous.

Source: Genetics Home Reference

NRAS (neuroblastoma RAS viral oncogene homolog) is a member of the closely related RAS gene family that also includes KRAS and HRAS. These RAS members are small GTPases that mediate extracellular signals to the downstream effectors RAF, PI3K and RALGDS. RAS members are involved in regulating diverse cellular processes including survival, proliferation and differentiation. While activating mutations in the RAS genes lead to sustained GTPase activation that contributes to oncogenesis, each oncogene exerts clear differences. Mutational hotspots in NRAS reside primarily in amino acid residues 12, 13 or 61 and function to suppress apoptosis.

Source: Genetics Home Reference

PubMed ID's

18372904, 21779495

Expand Collapse Q61H (c.183A>C)  in NRAS http://targetedcancercare.massgeneral.org/My-Trial-Guide/Genes/NRAS/Q61H-(c-183A-C).aspx Mutation Accordion Expanded