Varaico: Literature-Extracted Genetic Variants

Gene:CSF2
Variant:p.R41H

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.R41H
c.122G>A
Surrounding Variants
1 paper
NM_000758.4
p.R41C
c.121C>T
2 papers
NM_000758.4
p.R40R
c.120G>A
2 papers
NM_000758.4
p.R40Q
c.119G>A
3 papers
NM_000758.4
p.L42H
c.125T>A
2 papers
NM_000758.4
p.L42R
c.125T>G
3 papers
NM_000758.4
p.R40W
c.118C>T
1 paper
NM_000758.4
p.A39A
c.117C>T
1 paper
NM_000758.4
p.L43L
c.127C>T
1 paper
NM_000758.4
p.A39V
c.116C>T
1 paper
NM_000758.4
p.L43Q
c.128T>A
1 paper
NM_000758.4
p.L43P
c.128T>C
1 paper
NM_000758.4
p.A39T
c.115G>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."