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Gene | CSF3R |
Variant | Q823H |
Impact List | missense |
Protein Effect | no effect |
Gene Variant Descriptions | CSF3R Q823H lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). Q823H results in cell surface Csf3r expression similar to wild-type and is not transforming in cell culture (PMID: 28439110), and therefore, has no effect on Csf3r protein function. |
Associated Drug Resistance | |
Category Variants Paths |
CSF3R mutant CSF3R Q823H |
Transcript | NM_000760.4 |
gDNA | chr1:g.36466399C>A |
cDNA | c.2469G>T |
Protein | p.Q823H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000760.4 | chr1:g.36466399C>A | c.2469G>T | p.Q823H | RefSeq | GRCh38/hg38 |
NM_000760 | chr1:g.36466399C>A | c.2469G>T | p.Q823H | RefSeq | GRCh38/hg38 |
NM_000760.3 | chr1:g.36466399C>A | c.2469G>T | p.Q823H | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
CSF3R Q823H | no effect |