Varaico: Literature-Extracted Genetic Variants

Gene:CSF2
Variant:p.F130Y

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.F130Y
c.389T>A
Surrounding Variants
1 paper
NM_000758.4
p.F130C
c.389T>G
1 paper
NM_000758.4
p.F130insFs
c.388dupT
3 papers
NM_000758.4
p.L131L
c.391C>T
1 paper
NM_000758.4
p.L131fs
c.391_392fs
1 paper
NM_000758.4
p.F130_F136delFs
c.389_407del19
1 paper
NM_000758.4
p.L131Q
c.392T>A
1 paper
NM_000758.4
p.L131R
c.392T>G
1 paper
NM_000758.4
p.D129Y
c.385G>T
1 paper
NM_000758.4
p.L132V
c.394C>G
1 paper
NM_000758.4
p.L132F
c.394C>T
1 paper
NM_000758.4
p.K128K
c.384G>A
1 paper
NM_000758.4
p.K128N
c.384G>C
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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."