Varaico: Literature-Extracted Genetic Variants

Gene:CSF1
Variant:p.R29S

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
Selected Variant
1 paper
NM_000757.6
p.R29S
c.87G>T
Surrounding Variants
1 paper
NM_000757.6
p.R29S
c.87G>C
1 paper
NM_000757.6
p.S28_R29insFs
c.84_85insG
1 paper
NM_000757.6
p.I31F
c.91A>T
1 paper
NM_000757.6
p.A27A
c.81G>A
1 paper
NM_000757.6
p.L25H
c.74T>A
1 paper
NM_000757.6
p.L25_E33del0
c.73_99del27
1 paper
NM_000757.6
p.C24R
c.70T>C
4 papers
NM_000757.6
p.Y38C
c.113A>G
1 paper
NM_000757.6
p.H41Y
c.121C>T
1 paper
NM_000757.6
p.G17C
c.49G>T
1 paper
NM_000757.6
p.M42I
c.126G>A
1 paper
NM_000757.6
p.M42I
c.126G>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."