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Gene | CSF1R |
Variant | D802V |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | CSF1R D802V lies within the protein kinase domain of the Csf1r protein (UniProt.org). D802V confers a gain of function as demonstrated by increased stability of the Csf1r protein and the ability to transform cells in cultrue (PMID: 10340379, PMID: 18971950). |
Associated Drug Resistance | |
Category Variants Paths |
CSF1R mutant CSF1R act mut CSF1R D802V |
Transcript | NM_001288705.3 |
gDNA | chr5:g.150056256T>A |
cDNA | c.2405A>T |
Protein | p.D802V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |