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Gene CSF3R
Variant E524A
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions CSF3R E524A lies within fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). E524A results in G-CSF-independent cell growth and survival in culture (PMID: 29572350), and therefore, is predicted to lead to a gain of Csf3r protein function.
Associated Drug Resistance
Category Variants Paths

CSF3R mutant CSF3R act mut CSF3R E524A

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Transcript NM_000760.4
gDNA chr1:g.36469161T>G
cDNA c.1571A>C
Protein p.E524A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011540749.1 chr1:g.36469161T>G c.1571A>C p.E524A RefSeq GRCh38/hg38
XM_005270493.1 chr1:g.36469161T>G c.1571A>C p.E524A RefSeq GRCh38/hg38
NM_172313.2 chr1:g.36469161T>G c.1571A>C p.E524A RefSeq GRCh38/hg38
NM_156039.3 chr1:g.36469161T>G c.1571A>C p.E524A RefSeq GRCh38/hg38
XM_005270493.1 chr1:g.36469161T>G c.1571A>C p.E524A RefSeq GRCh38/hg38
NM_000760.3 chr1:g.36469161T>G c.1571A>C p.E524A RefSeq GRCh38/hg38
NM_172313 chr1:g.36469161T>G c.1571A>C p.E524A RefSeq GRCh38/hg38
NM_000760.4 chr1:g.36469161T>G c.1571A>C p.E524A RefSeq GRCh38/hg38
XM_017000370 chr1:g.36469161T>G c.1571A>C p.E524A RefSeq GRCh38/hg38
NM_172313.3 chr1:g.36469161T>G c.1571A>C p.E524A RefSeq GRCh38/hg38
XM_011540748 chr1:g.36469161T>G c.1571A>C p.E524A RefSeq GRCh38/hg38
NM_156039.3 chr1:g.36469161T>G c.1571A>C p.E524A RefSeq GRCh38/hg38
XM_047446753.1 chr1:g.36469161T>G c.1571A>C p.E524A RefSeq GRCh38/hg38
XM_011540749.1 chr1:g.36469161T>G c.1571A>C p.E524A RefSeq GRCh38/hg38
XM_011540748.3 chr1:g.36469161T>G c.1571A>C p.E524A RefSeq GRCh38/hg38
XM_005270493 chr1:g.36469161T>G c.1571A>C p.E524A RefSeq GRCh38/hg38
NM_156039 chr1:g.36469161T>G c.1571A>C p.E524A RefSeq GRCh38/hg38
XM_011540749 chr1:g.36469161T>G c.1571A>C p.E524A RefSeq GRCh38/hg38
NM_000760 chr1:g.36469161T>G c.1571A>C p.E524A RefSeq GRCh38/hg38
XM_017000370.1 chr1:g.36469161T>G c.1571A>C p.E524A 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 E524A gain of function - predicted JAK Inhibitor (Pan) - ATP competitive