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Gene | CSF3R |
Variant | Q170* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | CSF3R Q170* results in a premature truncation of the Csf3r protein at amino acid 170 of 836 (UniProt.org). Due to loss of the transmembrane and cytoplasmic domains (UniProt.org), Q170* is predicted to lead to a loss of Csf3r protein function. |
Associated Drug Resistance | |
Category Variants Paths |
CSF3R mutant CSF3R inact mut CSF3R Q170* |
Transcript | NM_000760.4 |
gDNA | chr1:g.36473600G>A |
cDNA | c.508C>T |
Protein | p.Q170* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011540749.1 | chr1:g.36473600G>A | c.508C>T | p.Q170* | RefSeq | GRCh38/hg38 |
XM_017000370.1 | chr1:g.36473600G>A | c.508C>T | p.Q170* | RefSeq | GRCh38/hg38 |
NM_156039.3 | chr1:g.36473600G>A | c.508C>T | p.Q170* | RefSeq | GRCh38/hg38 |
NM_000760.4 | chr1:g.36473600G>A | c.508C>T | p.Q170* | RefSeq | GRCh38/hg38 |
NM_000760.3 | chr1:g.36473600G>A | c.508C>T | p.Q170* | RefSeq | GRCh38/hg38 |
XM_005270493.1 | chr1:g.36473600G>A | c.508C>T | p.Q170* | RefSeq | GRCh38/hg38 |
XM_047446753.1 | chr1:g.36473600G>A | c.508C>T | p.Q170* | RefSeq | GRCh38/hg38 |
XM_005270493.1 | chr1:g.36473600G>A | c.508C>T | p.Q170* | RefSeq | GRCh38/hg38 |
NM_172313.2 | chr1:g.36473600G>A | c.508C>T | p.Q170* | RefSeq | GRCh38/hg38 |
NM_156039.3 | chr1:g.36473600G>A | c.508C>T | p.Q170* | RefSeq | GRCh38/hg38 |
XM_011540749.1 | chr1:g.36473600G>A | c.508C>T | p.Q170* | RefSeq | GRCh38/hg38 |
XM_011540748.3 | chr1:g.36473600G>A | c.508C>T | p.Q170* | RefSeq | GRCh38/hg38 |
NM_172313.3 | chr1:g.36473600G>A | c.508C>T | p.Q170* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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