Varaico: Literature-Extracted Genetic Variants

Gene:CSF1
Variant:p.R523R

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
2 papers
NM_000757.6
p.R523R
c.1567C>A
Surrounding Variants
1 paper
NM_000757.6
p.R522R
c.1566G>A
1 paper
NM_000757.6
p.Y518fs
c.1552_1553fs
1 paper
NM_000757.6
p.F517delFs
c.1551delC
1 paper
NM_000757.6
p.V512A
c.1535T>C
1 paper
NM_000757.6
p.A511G
c.1532C>G
1 paper
NM_000757.6
p.L510Q
c.1529T>A
12 papers
NM_000757.6
p.F489S
c.1466T>C
1 paper
NM_000757.6
p.S485P
c.1453T>C
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.N472D
c.1414A>G
1 paper
NM_000757.6
p.R466K
c.1397G>A
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