Varaico: Literature-Extracted Genetic Variants

Gene:CSF2
Variant:p.H32R

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.H32R
c.95A>G
Surrounding Variants
1 paper
NM_000758.4
p.H32L
c.95A>T
1 paper
NM_000758.4
p.H32Y
c.94C>T
1 paper
NM_000758.4
p.H32Q
c.96T>A
13 papers
NM_000758.4
p.E31E
c.93G>A
1 paper
NM_000758.4
p.V33L
c.97G>C
1 paper
NM_000758.4
p.V33L
c.97G>T
4 papers
NM_000758.4
p.V33G
c.98T>G
1 paper
NM_000758.4
p.E31K
c.91G>A
1 paper
NM_000758.4
p.W30_E31insFs
c.90_91ins4
3 papers
NM_000758.4
p.N34S
c.101A>G
1 paper
NM_000758.4
p.N34delFs
c.102delT
1 paper
NM_000758.4
p.W30*
c.89G>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."