Varaico: Literature-Extracted Genetic Variants

Gene:CSF1
Variant:p.Q90*

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.Q90*
c.268C>T
Surrounding Variants
1 paper
NM_000757.6
p.L87F
c.259C>T
1 paper
NM_000757.6
p.K84T
c.251A>C
1 paper
NM_000757.6
p.K84E
c.250A>G
1 paper
NM_000757.6
p.K83N
c.249G>C
1 paper
NM_000757.6
p.K83N
c.249G>T
1 paper
NM_000757.6
p.K83E
c.247A>G
1 paper
NM_000757.6
p.L82R
c.245T>G
1 paper
NM_000757.6
p.L82F
c.244C>T
1 paper
NM_000757.6
p.F99L
c.295T>C
1 paper
NM_000757.6
p.F99insFs
c.296_297insC
2 papers
NM_000757.6
p.P104delFs
c.310delC
1 paper
NM_000757.6
p.P104fs
c.310_311fs
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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."