Varaico: Literature-Extracted Genetic Variants

Gene:CSF2
Variant:p.L76V

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.L76V
c.226C>G
Surrounding Variants
1 paper
NM_000758.4
p.L76Q
c.227T>A
1 paper
NM_000758.4
p.L76L
c.228G>A
1 paper
NM_000758.4
p.L76_E77insFs
c.228_229insA
1 paper
NM_000758.4
p.E77K
c.229G>A
2 papers
NM_000758.4
p.E77Q
c.229G>C
1 paper
NM_000758.4
p.E77insFs
c.230_231insT
1 paper
NM_000758.4
p.E77G
c.230A>G
1 paper
NM_000758.4
p.E77V
c.230A>T
1 paper
NM_000758.4
p.L78_R84del0
c.233_250del18
1 paper
NM_000758.4
p.T74T
c.222C>T
1 paper
NM_000758.4
p.Q73Q
c.219G>A
1 paper
NM_000758.4
p.Q73H
c.219G>T
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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."