Varaico: Literature-Extracted Genetic Variants

Gene:CSF2
Variant:p.G92D

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.G92D
c.275G>A
Surrounding Variants
1 paper
NM_000758.4
p.G92V
c.275G>T
1 paper
NM_000758.4
p.P93T
c.277C>A
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.P93L
c.278C>T
3 papers
NM_000758.4
p.K91insFs
c.271dupA
1 paper
NM_000758.4
p.L90L
c.270C>T
1 paper
NM_000758.4
p.L94delFs
c.281_282delTG
1 paper
NM_000758.4
p.L94*
c.281T>A
2 papers
NM_000758.4
p.L90P
c.269T>C
1 paper
NM_000758.4
p.L94W
c.281T>G
1 paper
NM_000758.4
p.L90_K91ins4
c.268_272ins12
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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."