Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | HRAS |
Variant | T58I |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | HRAS T58I does not lie within any known functional domains of the Hras protein (UniProt.org). T58I results in an increased GDP dissociation rate, moderately decreased GTP hydrolysis activity, remains sensitive to GAP stimulation, and exhibits decreased binding to RAF in in vitro assays, leading to the accumulation of the GTP-bound state and activation of downstream signaling in culture (PMID: 20949621). |
Associated Drug Resistance | |
Category Variants Paths |
HRAS mutant HRAS act mut HRAS T58I |
Transcript | NM_005343.4 |
gDNA | chr11:g.533883G>A |
cDNA | c.173C>T |
Protein | p.T58I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |