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Gene CSF3R
Variant R308C
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CSF3R R308C lies within fibronectin type-III domain 2 of the Csf3r protein (UniProt.org). R308C confers a loss of function to the Csf3r protein as demonstrated by reduced cell surface expression and impaired downstream signaling (PMID: 24753537), and decreased cell viability (PMID: 28652245) in response to G-CSF stimulation in culture.
Associated Drug Resistance
Category Variants Paths

CSF3R mutant CSF3R inact mut CSF3R R308C

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Transcript NM_000760.4
gDNA chr1:g.36472313G>A
cDNA c.922C>T
Protein p.R308C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000760.4 chr1:g.36472313G>A c.922C>T p.R308C RefSeq GRCh38/hg38
XM_011540748 chr1:g.36472313G>A c.922C>T p.R308C RefSeq GRCh38/hg38
NM_172313 chr1:g.36472313G>A c.922C>T p.R308C RefSeq GRCh38/hg38
NM_172313.2 chr1:g.36472313G>A c.922C>T p.R308C RefSeq GRCh38/hg38
XM_005270493 chr1:g.36472313G>A c.922C>T p.R308C RefSeq GRCh38/hg38
XM_011540749.1 chr1:g.36472313G>A c.922C>T p.R308C RefSeq GRCh38/hg38
NM_156039.3 chr1:g.36472313G>A c.922C>T p.R308C RefSeq GRCh38/hg38
XM_005270493.1 chr1:g.36472313G>A c.922C>T p.R308C RefSeq GRCh38/hg38
XM_047446753.1 chr1:g.36472313G>A c.922C>T p.R308C RefSeq GRCh38/hg38
XM_011540748.3 chr1:g.36472313G>A c.922C>T p.R308C RefSeq GRCh38/hg38
NM_156039 chr1:g.36472313G>A c.922C>T p.R308C RefSeq GRCh38/hg38
XM_017000370.1 chr1:g.36472313G>A c.922C>T p.R308C RefSeq GRCh38/hg38
XM_011540749 chr1:g.36472313G>A c.922C>T p.R308C RefSeq GRCh38/hg38
XM_005270493.1 chr1:g.36472313G>A c.922C>T p.R308C RefSeq GRCh38/hg38
XM_017000370 chr1:g.36472313G>A c.922C>T p.R308C RefSeq GRCh38/hg38
NM_172313.3 chr1:g.36472313G>A c.922C>T p.R308C RefSeq GRCh38/hg38
NM_000760 chr1:g.36472313G>A c.922C>T p.R308C RefSeq GRCh38/hg38
NM_156039.3 chr1:g.36472313G>A c.922C>T p.R308C RefSeq GRCh38/hg38
NM_000760.3 chr1:g.36472313G>A c.922C>T p.R308C RefSeq GRCh38/hg38
XM_011540749.1 chr1:g.36472313G>A c.922C>T p.R308C RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Protein Effect Treatment Approaches
CSF3R R308C loss of function