Varaico: Literature-Extracted Genetic Variants

Gene:CSF2
Variant:p.P109_E110Splc

CSF2

1,827 papers

RefSeq Summary

The protein encoded by this gene is a cytokine that controls the production, differentiation, and function of granulocytes and macrophages. The active form of the protein is found extracellularly as a...

Pfam Domains

GM_CSFaa 18–139UCSCGranulocyte-macrophage colony-stimulating factor

Gene Aliases

HGNC Name

colony stimulating factor 2

HGNC Alias Symbols

GM-CSF; GMCSF

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000758.4
p.P109_E110Splc
c.328-2A>C
Surrounding Variants
1 paper
NM_000758.4
p.P109_E110Splc
c.328-1G>A
3 papers
NM_000758.4
p.E110K
c.328G>A
2 papers
NM_000758.4
p.E110Q
c.328G>C
1 paper
NM_000758.4
p.E110_T111insGC
c.328_332ins6
4 papers
NM_000758.4
p.E110A
c.329A>C
3 papers
NM_000758.4
p.E110G
c.329A>G
1 paper
NM_000758.4
p.E110V
c.329A>T
1 paper
NM_000758.4
p.E110D
c.330A>C
1 paper
NM_000758.4
p.E110D
c.330A>T
1 paper
NM_000758.4
p.S112P
c.334T>C
1 paper
NM_000758.4
p.P109_E110Splc
c.328-12C>T
1 paper
NM_000758.4
p.C113Y
c.338G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."