Varaico: Literature-Extracted Genetic Variants

Gene:CSF1
Variant:p.N472D

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.N472D
c.1414A>G
Surrounding Variants
1 paper
NM_000757.6
p.R466K
c.1397G>A
1 paper
NM_000757.6
p.L468_P469del2
c.1402_1406del6
1 paper
NM_000757.6
p.H481N
c.1441C>A
1 paper
NM_000757.6
p.H481Y
c.1441C>T
1 paper
NM_000757.6
p.S485P
c.1453T>C
12 papers
NM_000757.6
p.F489S
c.1466T>C
1 paper
NM_000757.6
p.A453E
c.1358C>A
1 paper
NM_000757.6
p.S451N
c.1352G>A
1 paper
NM_000757.6
p.D448H
c.1342G>C
1 paper
NM_000757.6
p.S445_D448del4
c.1333_1343del12
6 papers
NM_000757.6
p.G438R
c.1312G>A
6 papers
NM_000757.6
p.G438R
c.1312G>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."