Varaico: Literature-Extracted Genetic Variants

Gene:CSF1
Variant:p.R136*

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.R136*
c.406C>T
Surrounding Variants
1 paper
NM_000757.6
p.V135A
c.404T>C
4 papers
NM_000757.6
p.V135I
c.403G>A
1 paper
NM_000757.6
p.C134Y
c.401G>A
1 paper
NM_000757.6
p.L145L
c.433T>C
1 paper
NM_000757.6
p.V149_K150delFs
c.445_448del4
1 paper
NM_000757.6
p.E155K
c.463G>A
1 paper
NM_000757.6
p.T156K
c.467C>A
1 paper
NM_000757.6
p.T156_K157delFs
c.468_469delAA
1 paper
NM_000757.6
p.L159F
c.475C>T
1 paper
NM_000757.6
p.F167V
c.499T>G
1 paper
NM_000757.6
p.N170D
c.508A>G
1 paper
NM_000757.6
p.F175L
c.523T>C
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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."