Varaico: Literature-Extracted Genetic Variants

Gene:CSF2
Variant:p.L90P

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
2 papers
NM_000758.4
p.L90P
c.269T>C
Surrounding Variants
3 papers
NM_000758.4
p.K91insFs
c.271dupA
1 paper
NM_000758.4
p.L90_K91ins4
c.268_272ins12
1 paper
NM_000758.4
p.L90V
c.268C>G
2 papers
NM_000758.4
p.L90F
c.268C>T
1 paper
NM_000758.4
p.L90L
c.270C>T
3 papers
NM_000758.4
p.K91T
c.272A>C
1 paper
NM_000758.4
p.K91R
c.272A>G
1 paper
NM_000758.4
p.T88S
c.263C>G
1 paper
NM_000758.4
p.K89_L90del2
c.265_269del6
1 paper
NM_000758.4
p.G92D
c.275G>A
1 paper
NM_000758.4
p.G92V
c.275G>T
1 paper
NM_000758.4
p.T88S
c.262A>T
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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."