Varaico: Literature-Extracted Genetic Variants

Gene:CSF1
Variant:p.L408P

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
22 papers
NM_000757.6
p.L408P
c.1223T>C
Surrounding Variants
1 paper
NM_000757.6
p.I405I
c.1215C>T
1 paper
NM_000757.6
p.I405V
c.1213A>G
1 paper
NM_000757.6
p.R404W
c.1210A>T
1 paper
NM_000757.6
p.G412G
c.1236C>T
1 paper
NM_000757.6
p.S402P
c.1204T>C
2 papers
NM_000757.6
p.P416R
c.1247C>G
1 paper
NM_000757.6
p.L419ins2
c.1255_1256ins6
1 paper
NM_000757.6
p.P398fs
c.1192_1193fs
1 paper
NM_000757.6
p.P398S
c.1192C>T
1 paper
NM_000757.6
p.P397L
c.1190C>T
1 paper
NM_000757.6
p.D396delFs
c.1188delC
1 paper
NM_000757.6
p.D396fs
c.1186_1187fs
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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."