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Gene | NRAS |
Variant | I24N |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | NRAS I24N lies within the G domain of the Nras protein (PMID: 17384584). I24N results in autoactivation of Sos comparable to wild-type Nras under an autoinhibitory-free condition of Sos, but leads to deregulation of Sos activation under an autoinhibitory condition of Sos in an in vitro assay (PMID: 32753483), and results in increased GTP-bound Nras and activation of downstream signaling in cell culture, demonstrated by increased phosphorylation of Mek, and impaired cell migration in a zebrafish model (PMID: 21263000), and therefore, is predicted to lead to a loss of Nras protein function. |
Associated Drug Resistance | |
Category Variants Paths |
NRAS mutant NRAS act mut NRAS I24N NRAS mutant NRAS exon2 NRAS I24N |
Transcript | NM_002524.5 |
gDNA | chr1:g.114716090A>T |
cDNA | c.71T>A |
Protein | p.I24N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |