Varaico: Literature-Extracted Genetic Variants

Gene:CSF2
Variant:p.Q67L

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.Q67L
c.200A>T
Surrounding Variants
1 paper
NM_000758.4
p.Q67R
c.200A>G
1 paper
NM_000758.4
p.Q67*
c.199C>T
1 paper
NM_000758.4
p.Q67H
c.201G>C
4 papers
NM_000758.4
p.Q67_E68Splc
c.201+1G>A
1 paper
NM_000758.4
p.Q67_E68Splc
c.201+1G>T
1 paper
NM_000758.4
p.L66P
c.197T>C
1 paper
NM_000758.4
p.L66F
c.196C>T
1 paper
NM_000758.4
p.D65E
c.195C>A
1 paper
NM_000758.4
p.D65E
c.195C>G
1 paper
NM_000758.4
p.D65D
c.195C>T
1 paper
NM_000758.4
p.Q67_E68Splc
c.201+5G>C
1 paper
NM_000758.4
p.D65H
c.193G>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."