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 | CSF3R |
Variant | E524G |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | CSF3R E524G lies within fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). E524G results in G-CSF-independent cell growth and survival in culture (PMID: 29572350), and therefore, is predicted to lead to a gain of Csf3r protein function. |
Associated Drug Resistance | |
Category Variants Paths |
CSF3R mutant CSF3R act mut CSF3R E524G |
Transcript | NM_000760.4 |
gDNA | chr1:g.36469161T>C |
cDNA | c.1571A>G |
Protein | p.E524G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |