Varaico: Literature-Extracted Genetic Variants

Gene:CSF1

CSF1

406 papers

RefSeq Summary

The protein encoded by this gene is a cytokine that controls the production, differentiation, and function of macrophages. The active form of the protein is found extracellularly as a disulfide-linked...

Pfam Domains

CSF-1aa 41–180UCSCMacrophage colony stimulating factor-1 (CSF-1)

Gene Aliases

HGNC Name

colony stimulating factor 1

HGNC Alias Symbols

M-CSF; MCSF; MGC31930

Papers
RefSeq ID
Protein change
DNA change
1–12 of 198 variants
22 papers
NM_000757.6
p.L408P
c.1223T>C
12 papers
NM_000757.6
p.F489S
c.1466T>C
6 papers
NM_000757.6
p.G438R
c.1312G>A
6 papers
NM_000757.6
p.G438R
c.1312G>C
4 papers
NM_000757.6
p.Y38C
c.113A>G
4 papers
NM_000757.6
p.V135I
c.403G>A
4 papers
NM_000757.6
p.V373A
c.1118T>C
2 papers
NM_000757.6
p.R9H
c.26G>A
2 papers
NM_000757.6
p.R53W
c.157C>T
2 papers
NM_000757.6
p.P104delFs
c.310delC
2 papers
NM_000757.6
p.L112P
c.335T>C
2 papers
NM_000757.6
p.R136*
c.406C>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."