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Gene | CSF1R |
Variant | I794T |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | CSF1R I794T lies within the protein kinase domain of the Csf1r protein (UniProt.org). I794T results in transcription and stability of Csf1r similar to wild-type Csf1r, but results in decreased expression of the C-terminal fragment, ectodomain, and full length Csf1r (PMID: 33783963) and loss of Csf1r autophosphorylation in culture (PMID: 33783963, PMID: 36943150, PMID: 31827782 ), and therefore, is predicted to lead to a loss of Csf1r protein function. |
Associated Drug Resistance | |
Category Variants Paths |
CSF1R mutant CSF1R I794T |
Transcript | NM_001288705.3 |
gDNA | chr5:g.150056280A>G |
cDNA | c.2381T>C |
Protein | p.I794T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |