Varaico: Literature-Extracted Genetic Variants

Gene:CSF1
Variant:p.A312A

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.A312A
c.936C>T
Surrounding Variants
1 paper
NM_000757.6
p.E314_V317del4
c.940_950del12
1 paper
NM_000757.6
p.V317insFs
c.949_950insA
1 paper
NM_000757.6
p.A308T
c.922G>A
1 paper
NM_000757.6
p.A308S
c.922G>T
1 paper
NM_000757.6
p.V317A
c.950T>C
1 paper
NM_000757.6
p.P318delFs
c.953delC
1 paper
NM_000757.6
p.E307A
c.920A>C
1 paper
NM_000757.6
p.P318_Q319insT
c.952_956ins3
1 paper
NM_000757.6
p.E307K
c.919G>A
1 paper
NM_000757.6
p.P305_E306delFs
c.915_916delAG
1 paper
NM_000757.6
p.N302H
c.904A>C
1 paper
NM_000757.6
p.P325insFs
c.973dupC
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