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Gene | CSF3R |
Variant | E149D |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CSF3R E149D lies within fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). E149D has been identified in the scientific literature (PMID: 30891028), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CSF3R mutant CSF3R E149D |
Transcript | NM_000760.4 |
gDNA | chr1:g.36473802C>G |
cDNA | c.447G>C |
Protein | p.E149D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_172313.2 | chr1:g.36473802C>G | c.447G>C | p.E149D | RefSeq | GRCh38/hg38 |
XM_011540749.1 | chr1:g.36473802C>G | c.447G>C | p.E149D | RefSeq | GRCh38/hg38 |
NM_156039.3 | chr1:g.36473802C>G | c.447G>C | p.E149D | RefSeq | GRCh38/hg38 |
XM_005270493.1 | chr1:g.36473802C>G | c.447G>C | p.E149D | RefSeq | GRCh38/hg38 |
NM_156039.3 | chr1:g.36473802C>G | c.447G>C | p.E149D | RefSeq | GRCh38/hg38 |
XM_047446753.1 | chr1:g.36473802C>G | c.447G>C | p.E149D | RefSeq | GRCh38/hg38 |
XM_011540748.3 | chr1:g.36473802C>G | c.447G>C | p.E149D | RefSeq | GRCh38/hg38 |
XM_005270493.1 | chr1:g.36473802C>G | c.447G>C | p.E149D | RefSeq | GRCh38/hg38 |
XM_017000370.1 | chr1:g.36473802C>G | c.447G>C | p.E149D | RefSeq | GRCh38/hg38 |
NM_000760.3 | chr1:g.36473802C>G | c.447G>C | p.E149D | RefSeq | GRCh38/hg38 |
XM_011540749.1 | chr1:g.36473802C>G | c.447G>C | p.E149D | RefSeq | GRCh38/hg38 |
NM_000760.4 | chr1:g.36473802C>G | c.447G>C | p.E149D | RefSeq | GRCh38/hg38 |
NM_172313.3 | chr1:g.36473802C>G | c.447G>C | p.E149D | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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