GENETIC ENCYCLOPEDIA
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gene: RRAS2

id22800
symbolRRAS2
organismHomo sapiens
full nameRAS related 2
summaryThis gene encodes a member of the R-Ras subfamily of Ras-like small GTPases. The encoded protein associates with the plasma membrane and may function as a signal transducer. This protein may play an important role in activating signal transduction pathways that control cell proliferation. Mutations in this gene are associated with the growth of certain tumors. Pseudogenes of this gene are found on chromosomes 1 and 2. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]
variant-disease

NM_012250.6(RRAS2):c.215A>T (p.Gln72Leu) AND Noonan syndrome

GRCh37/hg19 11p15.2(chr11:14380275-14380775)x4 AND not provided

NM_012250.6(RRAS2):c.208G>A (p.Ala70Thr) AND Noonan syndrome

NM_012250.6(RRAS2):c.70_78dup (p.Gly24_Gly26dup) AND NOONAN SYNDROME 12

GRCh37/hg19 11p15.2(chr11:14380320-14380775)x1 AND not provided

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