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Gene | CSF3R |
Variant | V406fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | CSF3R V406fs results in a change in the amino acid sequence of the Csf3r protein beginning at aa 406 of 836, likely resulting in premature truncation of the functional protein (UniProt.org). Due to loss of the transmembrane and cytoplasmic domains (UniProt.org), V406fs is predicted to lead to a loss of Csf3r protein function. |
Associated Drug Resistance | |
Category Variants Paths |
CSF3R mutant CSF3R inact mut CSF3R V406fs |
Transcript | NM_000760.4 |
gDNA | chr1:g.(36471502_36471503) |
cDNA | c.(1216_1215) |
Protein | p.V406fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047446753.1 | chr1:g.(36471502_36471503) | c.(1216_1215) | p.V406fs | RefSeq | GRCh38/hg38 |
NM_156039.3 | chr1:g.(36471502_36471503) | c.(1216_1215) | p.V406fs | RefSeq | GRCh38/hg38 |
XM_005270493.1 | chr1:g.(36471502_36471503) | c.(1216_1215) | p.V406fs | RefSeq | GRCh38/hg38 |
XM_005270493.1 | chr1:g.(36471502_36471503) | c.(1216_1215) | p.V406fs | RefSeq | GRCh38/hg38 |
XM_011540749.1 | chr1:g.(36471502_36471503) | c.(1216_1215) | p.V406fs | RefSeq | GRCh38/hg38 |
NM_172313.2 | chr1:g.(36471502_36471503) | c.(1216_1215) | p.V406fs | RefSeq | GRCh38/hg38 |
NM_172313.3 | chr1:g.(36471502_36471503) | c.(1216_1215) | p.V406fs | RefSeq | GRCh38/hg38 |
XM_011540749.1 | chr1:g.(36471502_36471503) | c.(1216_1215) | p.V406fs | RefSeq | GRCh38/hg38 |
XM_017000370.1 | chr1:g.(36471502_36471503) | c.(1216_1215) | p.V406fs | RefSeq | GRCh38/hg38 |
NM_000760.3 | chr1:g.(36471502_36471503) | c.(1216_1215) | p.V406fs | RefSeq | GRCh38/hg38 |
NM_156039.3 | chr1:g.(36471502_36471503) | c.(1216_1215) | p.V406fs | RefSeq | GRCh38/hg38 |
XM_011540748.3 | chr1:g.(36471502_36471503) | c.(1216_1215) | p.V406fs | RefSeq | GRCh38/hg38 |
NM_000760.4 | chr1:g.(36471502_36471503) | c.(1216_1215) | p.V406fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
CSF3R V406fs | loss of function - predicted |