Varaico: Literature-Extracted Genetic Variants

Gene:CSF2
Variant:p.S46delFs

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.S46delFs
c.138delT
Surrounding Variants
9 papers
NM_000758.4
p.S46T
c.137G>C
1 paper
NM_000758.4
p.S46insFs
c.136_137insC
1 paper
NM_000758.4
p.S46C
c.136A>T
1 paper
NM_000758.4
p.S46R
c.138T>A
1 paper
NM_000758.4
p.R47R
c.139A>C
2 papers
NM_000758.4
p.R47G
c.139A>G
1 paper
NM_000758.4
p.R47*
c.139A>T
2 papers
NM_000758.4
p.L45L
c.135G>A
2 papers
NM_000758.4
p.L45_S46insFs
c.135_136insC
1 paper
NM_000758.4
p.R47I
c.140G>T
1 paper
NM_000758.4
p.L45R
c.134T>G
1 paper
NM_000758.4
p.L45_S46Fs
c.134_136delinsCCFs
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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."