Varaico: Literature-Extracted Genetic Variants

Gene:CSF1
Variant:p.P104delFs

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.P104delFs
c.310delC
Surrounding Variants
1 paper
NM_000757.6
p.P104fs
c.310_311fs
1 paper
NM_000757.6
p.N105_A106delFs
c.314_317del4
1 paper
NM_000757.6
p.A106_I107insFs
c.318_319insT
1 paper
NM_000757.6
p.A106A
c.318C>T
1 paper
NM_000757.6
p.F99insFs
c.296_297insC
1 paper
NM_000757.6
p.I107insFs
c.319_320insT
1 paper
NM_000757.6
p.I107V
c.319A>G
1 paper
NM_000757.6
p.F99L
c.295T>C
2 papers
NM_000757.6
p.L112P
c.335T>C
1 paper
NM_000757.6
p.Q90*
c.268C>T
1 paper
NM_000757.6
p.S116F
c.347C>T
1 paper
NM_000757.6
p.L117F
c.351G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."