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Gene | CSF1R |
Variant | R144H |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CSF1R R144H lies within Ig-like C2-type domain 2 of the Csf1r protein (UniProt.org). R144H has been identified in sequencing studies (PMID: 22610119), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Jun 2025). |
Associated Drug Resistance | |
Category Variants Paths |
CSF1R mutant CSF1R R144H |
Transcript | NM_001288705.3 |
gDNA | chr5:g.150080213C>T |
cDNA | c.431G>A |
Protein | p.R144H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |