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Gene | CSF3R |
Variant | T640N |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | CSF3R T640N lies within the transmembrane domain of the Csf3r protein (UniProt.org). T640N results in transformation of cells, increased Jak-Stat activation, and tumor growth in mouse models (PMID: 26475333). |
Associated Drug Resistance | |
Category Variants Paths |
CSF3R mutant CSF3R act mut CSF3R T640N |
Transcript | NM_000760.4 |
gDNA | chr1:g.36467597G>T |
cDNA | c.1919C>A |
Protein | p.T640N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_172313.2 | chr1:g.36467597G>T | c.1919C>A | p.T640N | RefSeq | GRCh38/hg38 |
NM_000760.4 | chr1:g.36467597G>T | c.1919C>A | p.T640N | RefSeq | GRCh38/hg38 |
XM_047446753.1 | chr1:g.36467597G>T | c.1919C>A | p.T640N | RefSeq | GRCh38/hg38 |
NM_000760.3 | chr1:g.36467597G>T | c.1919C>A | p.T640N | RefSeq | GRCh38/hg38 |
XM_005270493.1 | chr1:g.36467597G>T | c.1919C>A | p.T640N | RefSeq | GRCh38/hg38 |
NM_000760 | chr1:g.36467597G>T | c.1919C>A | p.T640N | RefSeq | GRCh38/hg38 |
XM_005270493.1 | chr1:g.36467597G>T | c.1919C>A | p.T640N | RefSeq | GRCh38/hg38 |
XM_011540748.3 | chr1:g.36467597G>T | c.1919C>A | p.T640N | RefSeq | GRCh38/hg38 |
XM_011540748 | chr1:g.36467597G>T | c.1919C>A | p.T640N | RefSeq | GRCh38/hg38 |
XM_017000370 | chr1:g.36467597G>T | c.1919C>A | p.T640N | RefSeq | GRCh38/hg38 |
XM_011540749 | chr1:g.36467597G>T | c.1919C>A | p.T640N | RefSeq | GRCh38/hg38 |
NM_156039 | chr1:g.36467597G>T | c.1919C>A | p.T640N | RefSeq | GRCh38/hg38 |
XM_011540749.1 | chr1:g.36467597G>T | c.1919C>A | p.T640N | RefSeq | GRCh38/hg38 |
NM_172313.3 | chr1:g.36467597G>T | c.1919C>A | p.T640N | RefSeq | GRCh38/hg38 |
NM_156039.3 | chr1:g.36467597G>T | c.1919C>A | p.T640N | RefSeq | GRCh38/hg38 |
XM_005270493 | chr1:g.36467597G>T | c.1919C>A | p.T640N | RefSeq | GRCh38/hg38 |
NM_156039.3 | chr1:g.36467597G>T | c.1919C>A | p.T640N | RefSeq | GRCh38/hg38 |
XM_017000370.1 | chr1:g.36467597G>T | c.1919C>A | p.T640N | RefSeq | GRCh38/hg38 |
NM_172313 | chr1:g.36467597G>T | c.1919C>A | p.T640N | RefSeq | GRCh38/hg38 |
XM_011540749.1 | chr1:g.36467597G>T | c.1919C>A | p.T640N | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
CSF3R T640N | gain of function | JAK Inhibitor (Pan) - ATP competitive |