CSF3R W341C
Gene Variant Detail

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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

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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
NM_156039 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 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
XM_005270493.1 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
NM_156039.3 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
XM_017000370.1 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_172313.2 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 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
XM_011540749.1 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_000760.3 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
NM_156039.3 chr1:g.36472114C>A c.1023G>T p.W341C 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
CSF3R W341C hematologic cancer sensitive Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, Jakafi (ruxolitinib) inhibited viability of a cell line expressing CSF3R W341C in culture (PMID: 28652245). 28652245