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Gene | CSF1R |
Variant | E557D |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CSF1R E557D lies within the regulatory juxtamembrane domain of the Csf1r protein (UniProt.org). E557D has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Jun 2025). |
Associated Drug Resistance | |
Category Variants Paths |
CSF1R mutant CSF1R E557D |
Transcript | NM_001288705.3 |
gDNA | chr5:g.150061805C>G |
cDNA | c.1671G>C |
Protein | p.E557D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |