Gene Detail

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Gene Symbol HRAS
Synonyms C-BAS/HAS | C-H-RAS | C-HA-RAS1 | CTLO | H-RASIDX | HAMSV | HRAS1 | p21ras | RASH1
Gene Description HRAS, HRas proto-oncogene, GTPase, is a member of the small GTPase family that upon activation by growth factors stimulates multiple downstream pathways such as RAF and PI3K to promote cell proliferation and survival (PMID: 21779504, PMID: 32241873). HRAS activating mutations are commonly found in tumors, including dermatological, head and neck, thyroid, kidney, bladder cancers (PMID: 29524560), squamous cell papilloma (PMID: 31960612), and breast adenomyoepitheliomas (PMID: 31887226).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
3265 11 11p15.5 NM_005343 Oncogene (PMID: 30606230)

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
G12X missense unknown HRAS G12X indicates any HRAS missense mutation that results in replacement of the glycine (G) at amino acid 12 by a different amino acid. HRAS G12 mutations are hotspot mutations that often result in decreased Hras GTPase activity, leading to activation of downstream signaling and transformation of cultured cells (PMID: 6092966, PMID: 24224811, PMID: 26985062).
G13X missense unknown HRAS G13X indicates any HRAS missense mutation that results in replacement of the glycine (G) at amino acid 13 by a different amino acid. HRAS G13 mutations are hotspot mutations that often result in decreased Hras GTPase activity, leading to activation of downstream signaling and transformation of cultured cells (PMID: 8430333, PMID: 21850009, PMID: 24224811, PMID: 26985062).
Q61X missense unknown HRAS Q61X indicates any HRAS missense mutation that results in replacement of the glutamine (Q) at amino acid 61 by a different amino acid. HRAS Q61 mutations are hotspot mutations that often result in decreased Hras GTPase activity, leading to activation of downstream signaling and transformation of cultured cells (PMID: 3510078, PMID: 26985062).
act mut unknown unknown HRAS act mut indicates that the variant results in activation of HRAS downstream signaling. The mechanism causing the activation can include either loss of GTP hydrolysis activity (loss of function) or increased nucleotide exchange rate (gain of function).
inact mut unknown loss of function HRAS inact mut indicates that the variant results in failure to activate HRAS downstream signaling. However, the specific amino acid change has not been identified.
mutant unknown unknown HRAS mutant indicates an unspecified mutation in the HRAS gene.