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Gene | CSF3R |
Variant | W341C |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | CSF3R W341C lies within fibronectin type-III domain 3 of the Csf3r protein (UniProt.org). W341C confers a gain of function to the Csf3r protein as demonstrated by increased receptor dimerization, elevated Stat5, Jak2 and Erk activation, and transformation in cultured cells (PMID: 28652245). |
Associated Drug Resistance | |
Category Variants Paths |
CSF3R mutant CSF3R act mut CSF3R W341C |
Transcript | NM_000760.4 |
gDNA | chr1:g.36472114C>A |
cDNA | c.1023G>T |
Protein | p.W341C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005270493.1 | chr1:g.36472114C>A | c.1023G>T | p.W341C | RefSeq | GRCh38/hg38 |
XM_017000370.1 | chr1:g.36472114C>A | c.1023G>T | p.W341C | RefSeq | GRCh38/hg38 |
NM_000760.4 | chr1:g.36472114C>A | c.1023G>T | p.W341C | RefSeq | GRCh38/hg38 |
XM_011540749.1 | chr1:g.36472114C>A | c.1023G>T | p.W341C | RefSeq | GRCh38/hg38 |
XM_011540748 | chr1:g.36472114C>A | c.1023G>T | p.W341C | RefSeq | GRCh38/hg38 |
NM_156039 | chr1:g.36472114C>A | c.1023G>T | p.W341C | RefSeq | GRCh38/hg38 |
NM_172313.3 | chr1:g.36472114C>A | c.1023G>T | p.W341C | RefSeq | GRCh38/hg38 |
NM_172313.2 | chr1:g.36472114C>A | c.1023G>T | p.W341C | RefSeq | GRCh38/hg38 |
XM_011540749 | chr1:g.36472114C>A | c.1023G>T | p.W341C | RefSeq | GRCh38/hg38 |
XM_047446753.1 | chr1:g.36472114C>A | c.1023G>T | p.W341C | RefSeq | GRCh38/hg38 |
XM_011540749.1 | chr1:g.36472114C>A | c.1023G>T | p.W341C | RefSeq | GRCh38/hg38 |
XM_005270493.1 | chr1:g.36472114C>A | c.1023G>T | p.W341C | RefSeq | GRCh38/hg38 |
NM_156039.3 | chr1:g.36472114C>A | c.1023G>T | p.W341C | RefSeq | GRCh38/hg38 |
NM_156039.3 | chr1:g.36472114C>A | c.1023G>T | p.W341C | RefSeq | GRCh38/hg38 |
XM_005270493 | chr1:g.36472114C>A | c.1023G>T | p.W341C | RefSeq | GRCh38/hg38 |
NM_000760 | chr1:g.36472114C>A | c.1023G>T | p.W341C | RefSeq | GRCh38/hg38 |
NM_172313 | chr1:g.36472114C>A | c.1023G>T | p.W341C | RefSeq | GRCh38/hg38 |
NM_000760.3 | chr1:g.36472114C>A | c.1023G>T | p.W341C | RefSeq | GRCh38/hg38 |
XM_017000370 | chr1:g.36472114C>A | c.1023G>T | p.W341C | RefSeq | GRCh38/hg38 |
XM_011540748.3 | chr1:g.36472114C>A | c.1023G>T | p.W341C | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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