Varaico: Literature-Extracted Genetic Variants

Gene:CSF2
Variant:p.H100N

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.H100N
c.298C>A
Surrounding Variants
1 paper
NM_000758.4
p.H100insFs
c.298_299ins4
1 paper
NM_000758.4
p.H100R
c.299A>G
1 paper
NM_000758.4
p.S99T
c.296G>C
1 paper
NM_000758.4
p.S99_H100insFs
c.297_298ins4
1 paper
NM_000758.4
p.K102_T108insFs
c.304_323dup20
1 paper
NM_000758.4
p.Y101*
c.303C>G
1 paper
NM_000758.4
p.A98V
c.293C>T
1 paper
NM_000758.4
p.K102*
c.304A>T
1 paper
NM_000758.4
p.K102K
c.306G>A
1 paper
NM_000758.4
p.Q103*
c.307C>T
2 papers
NM_000758.4
p.Q103R
c.308A>G
3 papers
NM_000758.4
p.M96I
c.288G>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."