Varaico: Literature-Extracted Genetic Variants

Gene:CSF1
Variant:p.G438R

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
6 papers
NM_000757.6
p.G438R
c.1312G>A
Surrounding Variants
6 papers
NM_000757.6
p.G438R
c.1312G>C
1 paper
NM_000757.6
p.S431*
c.1292C>A
1 paper
NM_000757.6
p.S445_D448del4
c.1333_1343del12
1 paper
NM_000757.6
p.S431A
c.1291T>G
1 paper
NM_000757.6
p.D448H
c.1342G>C
1 paper
NM_000757.6
p.S451N
c.1352G>A
1 paper
NM_000757.6
p.A453E
c.1358C>A
1 paper
NM_000757.6
p.L419ins2
c.1255_1256ins6
2 papers
NM_000757.6
p.P416R
c.1247C>G
1 paper
NM_000757.6
p.G412G
c.1236C>T
1 paper
NM_000757.6
p.R466K
c.1397G>A
1 paper
NM_000757.6
p.L468_P469del2
c.1402_1406del6
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