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Gene | CSF3R |
Variant | E331* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | CSF3R E331* results in a premature truncation of the Csf3r protein at amino acid 331 of 836 (UniProt.org). Due to the loss of the transmembrane and cytoplasmic domains (UniProt.org), E331* is predicted to lead to a loss of Csf3r protein function. |
Associated Drug Resistance | |
Category Variants Paths |
CSF3R mutant CSF3R inact mut CSF3R E331* |
Transcript | NM_000760.4 |
gDNA | chr1:g.36472244C>A |
cDNA | c.991G>T |
Protein | p.E331* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047446753.1 | chr1:g.36472244C>A | c.991G>T | p.E331* | RefSeq | GRCh38/hg38 |
NM_000760.4 | chr1:g.36472244C>A | c.991G>T | p.E331* | RefSeq | GRCh38/hg38 |
XM_017000370 | chr1:g.36472244C>A | c.991G>T | p.E331* | RefSeq | GRCh38/hg38 |
NM_000760.3 | chr1:g.36472244C>A | c.991G>T | p.E331* | RefSeq | GRCh38/hg38 |
XM_005270493 | chr1:g.36472244C>A | c.991G>T | p.E331* | RefSeq | GRCh38/hg38 |
NM_172313.3 | chr1:g.36472244C>A | c.991G>T | p.E331* | RefSeq | GRCh38/hg38 |
NM_156039 | chr1:g.36472244C>A | c.991G>T | p.E331* | RefSeq | GRCh38/hg38 |
XM_005270493.1 | chr1:g.36472244C>A | c.991G>T | p.E331* | RefSeq | GRCh38/hg38 |
XM_005270493.1 | chr1:g.36472244C>A | c.991G>T | p.E331* | RefSeq | GRCh38/hg38 |
XM_011540749.1 | chr1:g.36472244C>A | c.991G>T | p.E331* | RefSeq | GRCh38/hg38 |
NM_172313 | chr1:g.36472244C>A | c.991G>T | p.E331* | RefSeq | GRCh38/hg38 |
XM_017000370.1 | chr1:g.36472244C>A | c.991G>T | p.E331* | RefSeq | GRCh38/hg38 |
NM_000760 | chr1:g.36472244C>A | c.991G>T | p.E331* | RefSeq | GRCh38/hg38 |
XM_011540748 | chr1:g.36472244C>A | c.991G>T | p.E331* | RefSeq | GRCh38/hg38 |
XM_011540749 | chr1:g.36472244C>A | c.991G>T | p.E331* | RefSeq | GRCh38/hg38 |
NM_156039.3 | chr1:g.36472244C>A | c.991G>T | p.E331* | RefSeq | GRCh38/hg38 |
NM_156039.3 | chr1:g.36472244C>A | c.991G>T | p.E331* | RefSeq | GRCh38/hg38 |
XM_011540749.1 | chr1:g.36472244C>A | c.991G>T | p.E331* | RefSeq | GRCh38/hg38 |
NM_172313.2 | chr1:g.36472244C>A | c.991G>T | p.E331* | RefSeq | GRCh38/hg38 |
XM_011540748.3 | chr1:g.36472244C>A | c.991G>T | p.E331* | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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