Varaico: Literature-Extracted Genetic Variants

Gene:CSF2
Variant:p.P69L

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
2 papers
NM_000758.4
p.P69L
c.206C>T
Surrounding Variants
1 paper
NM_000758.4
p.P69_T70delFs
c.207_208delGA
1 paper
NM_000758.4
p.P69A
c.205C>G
1 paper
NM_000758.4
p.T70delFs
c.210delC
1 paper
NM_000758.4
p.T70N
c.209C>A
1 paper
NM_000758.4
p.T70T
c.210C>A
3 papers
NM_000758.4
p.E68K
c.202G>A
1 paper
NM_000758.4
p.Q67_E68Splc
c.202-1G>A
1 paper
NM_000758.4
p.C71S
c.211T>A
1 paper
NM_000758.4
p.C71Y
c.212G>A
1 paper
NM_000758.4
p.L72delFs
c.214delC
1 paper
NM_000758.4
p.L72insFs
c.215dupT
2 papers
NM_000758.4
p.L72Q
c.215T>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."