Varaico: Literature-Extracted Genetic Variants

Gene:CSF2
Variant:p.K124Q

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.K124Q
c.370A>C
Surrounding Variants
2 papers
NM_000758.4
p.F123L
c.369C>G
2 papers
NM_000758.4
p.E125K
c.373G>A
1 paper
NM_000758.4
p.S122T
c.365G>C
1 paper
NM_000758.4
p.N126T
c.377A>C
1 paper
NM_000758.4
p.N126I
c.377A>T
1 paper
NM_000758.4
p.L127_D129insFs
c.379_386dup8
2 papers
NM_000758.4
p.L127V
c.379C>G
3 papers
NM_000758.4
p.L127L
c.379C>T
1 paper
NM_000758.4
p.L127fs
c.379_380fs
1 paper
NM_000758.4
p.L127Q
c.380T>A
4 papers
NM_000758.4
p.K128*
c.382A>T
1 paper
NM_000758.4
p.K128R
c.383A>G
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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."